NM_001386795.1(DTNA):c.4A>G (p.Ile2Val) AND Left ventricular noncompaction 1

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 25, 2021
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV002710351.3

Allele description [Variation Report for NM_001386795.1(DTNA):c.4A>G (p.Ile2Val)]

NM_001386795.1(DTNA):c.4A>G (p.Ile2Val)

Gene:

DTNA:dystrobrevin alpha [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

18q12.1

Genomic location:

Preferred name:

NM_001386795.1(DTNA):c.4A>G (p.Ile2Val)

HGVS:

NC_000018.10:g.34755980A>G
NG_009201.1:g.267691A>G
NM_001128175.2:c.4A>G
NM_001198938.2:c.4A>G
NM_001198939.2:c.4A>G
NM_001198940.2:c.4A>G
NM_001198941.2:c.4A>G
NM_001198945.2:c.4A>G
NM_001386753.1:c.4A>G
NM_001386754.1:c.4A>G
NM_001386755.1:c.4A>G
NM_001386756.1:c.4A>G
NM_001386757.1:c.4A>G
NM_001386758.1:c.4A>G
NM_001386759.1:c.4A>G
NM_001386760.1:c.4A>G
NM_001386761.1:c.4A>G
NM_001386762.1:c.4A>G
NM_001386763.1:c.4A>G
NM_001386764.1:c.4A>G
NM_001386765.1:c.4A>G
NM_001386766.1:c.4A>G
NM_001386767.1:c.4A>G
NM_001386768.1:c.4A>G
NM_001386769.1:c.4A>G
NM_001386770.1:c.4A>G
NM_001386771.1:c.4A>G
NM_001386772.1:c.4A>G
NM_001386773.1:c.4A>G
NM_001386774.1:c.4A>G
NM_001386775.1:c.4A>G
NM_001386776.1:c.4A>G
NM_001386777.1:c.4A>G
NM_001386788.1:c.4A>G
NM_001386795.1:c.4A>GMANE SELECT
NM_001390.5:c.4A>G
NM_001391.5:c.4A>G
NM_001392.5:c.4A>G
NM_032975.4:c.4A>G
NM_032978.7:c.4A>G
NM_032979.5:c.4A>G
NP_001121647.1:p.Ile2Val
NP_001185867.1:p.Ile2Val
NP_001185868.1:p.Ile2Val
NP_001185869.1:p.Ile2Val
NP_001185870.1:p.Ile2Val
NP_001185874.1:p.Ile2Val
NP_001373682.1:p.Ile2Val
NP_001373683.1:p.Ile2Val
NP_001373684.1:p.Ile2Val
NP_001373685.1:p.Ile2Val
NP_001373686.1:p.Ile2Val
NP_001373687.1:p.Ile2Val
NP_001373688.1:p.Ile2Val
NP_001373689.1:p.Ile2Val
NP_001373690.1:p.Ile2Val
NP_001373691.1:p.Ile2Val
NP_001373692.1:p.Ile2Val
NP_001373693.1:p.Ile2Val
NP_001373694.1:p.Ile2Val
NP_001373695.1:p.Ile2Val
NP_001373696.1:p.Ile2Val
NP_001373697.1:p.Ile2Val
NP_001373698.1:p.Ile2Val
NP_001373699.1:p.Ile2Val
NP_001373700.1:p.Ile2Val
NP_001373701.1:p.Ile2Val
NP_001373702.1:p.Ile2Val
NP_001373703.1:p.Ile2Val
NP_001373704.1:p.Ile2Val
NP_001373705.1:p.Ile2Val
NP_001373706.1:p.Ile2Val
NP_001373717.1:p.Ile2Val
NP_001373724.1:p.Ile2Val
NP_001381.2:p.Ile2Val
NP_001382.2:p.Ile2Val
NP_001383.2:p.Ile2Val
NP_116757.2:p.Ile2Val
NP_116760.2:p.Ile2Val
NP_116761.2:p.Ile2Val
LRG_756t1:c.4A>G
LRG_756t2:c.4A>G
LRG_756t3:c.4A>G
LRG_756t4:c.4A>G
LRG_756:g.267691A>G
LRG_756p1:p.Ile2Val
LRG_756p2:p.Ile2Val
LRG_756p3:p.Ile2Val
LRG_756p4:p.Ile2Val
NC_000018.9:g.32335944A>G

Protein change:

I2V

Molecular consequence:

NM_001128175.2:c.4A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001198938.2:c.4A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001198939.2:c.4A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001198940.2:c.4A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001198941.2:c.4A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001198945.2:c.4A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001386753.1:c.4A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001386754.1:c.4A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001386755.1:c.4A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001386756.1:c.4A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001386757.1:c.4A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001386758.1:c.4A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001386759.1:c.4A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001386760.1:c.4A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001386761.1:c.4A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001386762.1:c.4A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001386763.1:c.4A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001386764.1:c.4A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001386765.1:c.4A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001386766.1:c.4A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001386767.1:c.4A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001386768.1:c.4A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001386769.1:c.4A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001386770.1:c.4A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001386771.1:c.4A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001386772.1:c.4A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001386773.1:c.4A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001386774.1:c.4A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001386775.1:c.4A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001386776.1:c.4A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001386777.1:c.4A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001386788.1:c.4A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001386795.1:c.4A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001390.5:c.4A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001391.5:c.4A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001392.5:c.4A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_032975.4:c.4A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_032978.7:c.4A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_032979.5:c.4A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Left ventricular noncompaction 1 (LVNC1)
Synonyms:: LEFT VENTRICULAR NONCOMPACTION 1 WITH OR WITHOUT CONGENITAL HEART DEFECTS
Identifiers:: MONDO: MONDO:0011403; MedGen: C1858725; Orphanet: 54260; OMIM: 604169

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003006111	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Dec 25, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003006111

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Dec 25, 2021)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003006111.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with DTNA-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 2 of the DTNA protein (p.Ile2Val).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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