ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.2446T>C (p.Trp816Arg)

dbSNP: rs1555337763
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000619099 SCV000737373 uncertain significance Cardiovascular phenotype 2023-02-22 criteria provided, single submitter clinical testing The p.W816R variant (also known as c.2446T>C), located in coding exon 20 of the MYH7 gene, results from a T to C substitution at nucleotide position 2446. The tryptophan at codon 816 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV001067648 SCV001232717 likely pathogenic Hypertrophic cardiomyopathy 2023-06-16 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely 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: 519200). This missense change has been observed in individual(s) with clinical features of dilated cardiomyopathy (Invitae). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tryptophan, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 816 of the MYH7 protein (p.Trp816Arg).

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