ClinVar Miner

Submissions for variant NM_016599.5(MYOZ2):c.88A>G (p.Met30Val)

dbSNP: rs1561110024
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002376039 SCV002687451 uncertain significance Cardiovascular phenotype 2020-08-17 criteria provided, single submitter clinical testing The p.M30V variant (also known as c.88A>G), located in coding exon 2 of the MYOZ2 gene, results from an A to G substitution at nucleotide position 88. The methionine at codon 30 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.

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