ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.3934C>G (p.Leu1312Val)

dbSNP: rs886050419
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000538938 SCV000623708 uncertain significance Hypertrophic cardiomyopathy 2023-08-17 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on MYH7 protein function. ClinVar contains an entry for this variant (Variation ID: 454371). This missense change has been observed in individual(s) with clinical features of MYH7-related disease (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1312 of the MYH7 protein (p.Leu1312Val).
Ambry Genetics RCV002376983 SCV002626117 uncertain significance Cardiovascular phenotype 2020-11-10 criteria provided, single submitter clinical testing The p.L1312V variant (also known as c.3934C>G), located in coding exon 27 of the MYH7 gene, results from a C to G substitution at nucleotide position 3934. The leucine at codon 1312 is replaced by valine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Color Diagnostics, LLC DBA Color Health RCV003532159 SCV004356821 uncertain significance Cardiomyopathy 2021-09-20 criteria provided, single submitter clinical testing This missense variant replaces leucine with valine at codon 1312 of the MYH7 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV005004216 SCV005629709 uncertain significance Hypertrophic cardiomyopathy 1; Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; Dilated cardiomyopathy 1S; MYH7-related skeletal myopathy 2024-03-08 criteria provided, single submitter clinical testing

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