ClinVar Miner

Submissions for variant NM_000258.3(MYL3):c.532G>A (p.Asp178Asn)

gnomAD frequency: 0.00002  dbSNP: rs145520567
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000036031 SCV000059683 uncertain significance not specified 2018-05-21 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Asp178Asn var iant in MYL3 has been reported in 3 individuals with hypertrophic cardiomyopathy (Weissler-Snir 2017, LMM Data), but has also been identified in 0.14% (44/30782 ) of South Asian chromosomes by the Genome Aggregation Database (gnomAD, http:// gnomad.broadinstitute.org/; dbSNP rs145520567). This variant is also reported in ClinVar (Variation ID 43128). Computational prediction tools and conservation a nalysis suggest that the p.Asp178Asn variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, wh ile the clinical significance of the p.Asp178Asn variant is uncertain, its frequ ency in the general population suggests that it is more likely to be benign. ACM G/AMP Criteria applied: PP3, PS4_Supporting, BS1.
GeneDx RCV000587491 SCV000208891 uncertain significance not provided 2022-12-27 criteria provided, single submitter clinical testing Reported in one individual from a cohort with clinically confirmed HCM (Weissler-Snir et al., 2017) and in two patients from the Framingham and Jackson Heart Study cohorts (Bick et al., 2012); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 22958901, 29420653, 28193612, 35653365)
Illumina Laboratory Services, Illumina RCV000262754 SCV000444746 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000262754 SCV000549162 likely benign Hypertrophic cardiomyopathy 2025-01-26 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000587491 SCV000696365 likely benign not provided 2016-01-25 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769163 SCV000900538 benign Cardiomyopathy 2021-03-24 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000769163 SCV000904646 likely benign Cardiomyopathy 2019-11-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002345285 SCV002640800 likely benign Cardiovascular phenotype 2019-10-03 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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