ClinVar Miner

Submissions for variant NM_016599.5(MYOZ2):c.585T>A (p.Phe195Leu)

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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 RCV004987412 SCV005458943 uncertain significance Cardiovascular phenotype 2024-07-01 criteria provided, single submitter clinical testing The p.F195L variant (also known as c.585T>A), located in coding exon 5 of the MYOZ2 gene, results from a T to A substitution at nucleotide position 585. The phenylalanine at codon 195 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.

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