NM_021095.4(SLC5A6):c.422_423del (p.Val141fs) AND not provided

Germline classification:: Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:: Jun 22, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV002069329.7

Allele description [Variation Report for NM_021095.4(SLC5A6):c.422_423del (p.Val141fs)]

NM_021095.4(SLC5A6):c.422_423del (p.Val141fs)

Gene:

SLC5A6:solute carrier family 5 member 6 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

2p23.3

Genomic location:

Preferred name:

NM_021095.4(SLC5A6):c.422_423del (p.Val141fs)

HGVS:

NC_000002.12:g.27206913CA[1]
NM_021095.4:c.422_423delMANE SELECT
NP_066918.2:p.Val141fs
NC_000002.11:g.27429781CA[1]
NM_021095.2:c.422_423del
NM_021095.2:c.422_423delTG
NM_021095.3:c.422_423del
NR_028323.2:n.876TG[1]

Protein change:

V141fs

Links:

OMIM: 604024.0003; dbSNP: rs749980819

NCBI 1000 Genomes Browser:

rs749980819

Molecular consequence:

NM_021095.4:c.422_423del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_028323.2:n.876TG[1] - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002020717	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Nov 10, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002496287	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely pathogenic (Jun 22, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002020717

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Nov 10, 2021)

germline

clinical testing

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

SCV002496287

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely pathogenic
(Jun 22, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Revvity Omics, Revvity, SCV002020717.3

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

#	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

From GeneDx, SCV002496287.3

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

Description

Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Functional studies suggest a damaging effect: impaired biotin uptake (Byrne et al., 2019); This variant is associated with the following publications: (PMID: 31754459, 31392107, 35013551, Moldenhauer_2023_Abstract)

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

Last Updated: Mar 16, 2024

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