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NM_000258.3(MYL3):c.466G>T (p.Val156Leu) AND Hypertrophic cardiomyopathy 8

Germline classification:
Conflicting interpretations of pathogenicity (3 submissions)
Last evaluated:
Jan 12, 2018
Review status:
criteria provided, conflicting classifications
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:
RCV000201472.8

Allele description [Variation Report for NM_000258.3(MYL3):c.466G>T (p.Val156Leu)]

NM_000258.3(MYL3):c.466G>T (p.Val156Leu)

Gene:
MYL3:myosin light chain 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p21.31
Genomic location:
Preferred name:
NM_000258.3(MYL3):c.466G>T (p.Val156Leu)
Other names:
p.V156L:GTG>TTG
HGVS:
  • NC_000003.12:g.46859490C>A
  • NG_007555.2:g.27680G>T
  • NM_000258.3:c.466G>TMANE SELECT
  • NP_000249.1:p.Val156Leu
  • NP_000249.1:p.Val156Leu
  • LRG_395t1:c.466G>T
  • LRG_395:g.27680G>T
  • LRG_395p1:p.Val156Leu
  • NC_000003.11:g.46900980C>A
  • NM_000258.2:c.466G>T
Protein change:
V156L
Links:
dbSNP: rs199474707
NCBI 1000 Genomes Browser:
rs199474707
Molecular consequence:
  • NM_000258.3:c.466G>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Name:
Hypertrophic cardiomyopathy 8
Synonyms:
CARDIOMYOPATHY, HYPERTROPHIC, MID-LEFT VENTRICULAR CHAMBER TYPE, 1; Familial hypertrophic cardiomyopathy 8; MYL3-Related Familial Hypertrophic Cardiomyopathy
Identifiers:
MONDO: MONDO:0012111; MedGen: C1837471; OMIM: 608751

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000256195Laboratory of Genetics and Molecular Cardiology, University of São Paulo - Sarcomeric Human Cardiomyopathy Registry (ShaRe)
criteria provided, single submitter

(LGCM Criteria August 2015)
Uncertain significancegermlineclinical testing

LGCM_Criteria_August_2015,

Citation Link,

SCV000679803Phosphorus, Inc.
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely pathogenic
(Aug 1, 2017)
germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

SCV001309350Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)
Uncertain significance
(Jan 12, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Single-gene mutations and increased left ventricular wall thickness in the community: the Framingham Heart Study.

Morita H, Larson MG, Barr SC, Vasan RS, O'Donnell CJ, Hirschhorn JN, Levy D, Corey D, Seidman CE, Seidman JG, Benjamin EJ.

Circulation. 2006 Jun 13;113(23):2697-705. Epub 2006 Jun 5.

PubMed [citation]
PMID:
16754800

Genetics of hypertrophic cardiomyopathy in Norway.

Berge KE, Leren TP.

Clin Genet. 2014 Oct;86(4):355-60. doi: 10.1111/cge.12286. Epub 2013 Oct 23.

PubMed [citation]
PMID:
24111713
See all PubMed Citations (5)

Details of each submission

From Laboratory of Genetics and Molecular Cardiology, University of São Paulo - Sarcomeric Human Cardiomyopathy Registry (ShaRe), SCV000256195.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From Phosphorus, Inc., SCV000679803.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (5)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From Illumina Laboratory Services, Illumina, SCV001309350.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 23, 2024