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NM_052867.4(NALCN):c.1172T>C (p.Leu391Pro) AND Hypotonia, infantile, with psychomotor retardation and characteristic facies 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 23, 2022
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:
RCV002795944.2

Allele description [Variation Report for NM_052867.4(NALCN):c.1172T>C (p.Leu391Pro)]

NM_052867.4(NALCN):c.1172T>C (p.Leu391Pro)

Genes:
LOC126861831:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:101909917-101911116 [Gene]
NALCN:sodium leak channel, non-selective [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q33.1
Genomic location:
Preferred name:
NM_052867.4(NALCN):c.1172T>C (p.Leu391Pro)
HGVS:
  • NC_000013.11:g.101258537A>G
  • NG_053176.1:g.163670T>C
  • NG_086329.1:g.1072A>G
  • NM_001350748.2:c.1172T>C
  • NM_001350749.2:c.1172T>C
  • NM_001350750.2:c.1085T>C
  • NM_001350751.2:c.1085T>C
  • NM_052867.4:c.1172T>CMANE SELECT
  • NP_001337677.1:p.Leu391Pro
  • NP_001337678.1:p.Leu391Pro
  • NP_001337679.1:p.Leu362Pro
  • NP_001337680.1:p.Leu362Pro
  • NP_443099.1:p.Leu391Pro
  • NC_000013.10:g.101910888A>G
Protein change:
L362P
Molecular consequence:
  • NM_001350748.2:c.1172T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350749.2:c.1172T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350750.2:c.1085T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350751.2:c.1085T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_052867.4:c.1172T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 (INNFD)
Identifiers:
MONDO: MONDO:0024567; MedGen: C3809454; Orphanet: 371364; OMIM: 615419

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003035481Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
criteria provided, single submitter

(ACGS Guidelines, 2020)		Uncertain significance
(Jun 23, 2022) 		inheritedclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues, SCV003035481.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 4, 2024