ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.1913C>T (p.Ala638Val)

gnomAD frequency: 0.00002  dbSNP: rs369935820
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Total submissions: 5
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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 RCV000154775 SCV000204455 uncertain significance not specified 2014-07-14 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001184480 SCV001350454 uncertain significance Cardiomyopathy 2023-03-30 criteria provided, single submitter clinical testing This missense variant replaces alanine with valine at codon 638 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 MYH7-related disorders in the literature. This variant has been identified in 1/251420 chromosomes 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.
Invitae RCV001365021 SCV001561243 uncertain significance Hypertrophic cardiomyopathy 2023-08-17 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 638 of the MYH7 protein (p.Ala638Val). This variant has not been reported in the literature in individuals affected with MYH7-related conditions. 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: 178083).
Fulgent Genetics, Fulgent Genetics RCV002483343 SCV002794398 uncertain significance Hypertrophic cardiomyopathy 1; Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; Congenital myopathy with fiber type disproportion; Dilated cardiomyopathy 1S; MYH7-related skeletal myopathy 2021-08-19 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001184480 SCV004822516 uncertain significance Cardiomyopathy 2023-11-30 criteria provided, single submitter clinical testing This missense variant replaces alanine with valine at codon 638 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 MYH7-related disorders in the literature. This variant has been identified in 1/251420 chromosomes 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.

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