ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.4156C>T (p.Leu1386Phe)

dbSNP: rs727504703
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Total submissions: 4
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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 RCV000155987 SCV000205699 uncertain significance not specified 2018-09-06 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Labcorp Genetics (formerly Invitae), Labcorp RCV000686624 SCV000814150 pathogenic Hypertrophic cardiomyopathy 2022-11-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt MYH7 protein function. ClinVar contains an entry for this variant (Variation ID: 179201). This missense change has been observed in individuals with hypertrophic cardiomyopathy (PMID: 26743238, 27532257; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 1386 of the MYH7 protein (p.Leu1386Phe).
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003486703 SCV004239466 uncertain significance Cardiomyopathy 2023-03-06 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV001249250 SCV001423189 not provided Primary dilated cardiomyopathy; Hypertrophic cardiomyopathy 1; Myosin storage myopathy; Left ventricular noncompaction no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 01-30-2019 by Lab or GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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