ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.2923G>A (p.Val975Met)

dbSNP: rs1892576769
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197362 SCV001368070 uncertain significance Congenital myopathy with fiber type disproportion 2019-06-10 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2,PP3.
Ambry Genetics RCV002436772 SCV002748527 uncertain significance Cardiovascular phenotype 2019-06-21 criteria provided, single submitter clinical testing The p.V975M variant (also known as c.2923G>A) is located in coding exon 22 of the MYH7 gene. The valine at codon 975 is replaced by methionine, an amino acid with highly similar properties. This change occurs in the first base pair of coding exon 22. This amino acid position is highly 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.

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