ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.1395C>G (p.Phe465Leu)

dbSNP: rs45508293
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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 RCV000244026 SCV000320014 uncertain significance Cardiovascular phenotype 2015-08-06 criteria provided, single submitter clinical testing The p.F465L variant (also known as c.1395C>G), located in coding exon 12 of the MYH7 gene, results from a C to G substitution at nucleotide position 1395. The phenylalanine at codon 465 is replaced by leucine, an amino acid with highly similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003150146 SCV003838114 uncertain significance Cardiomyopathy 2022-01-24 criteria provided, single submitter clinical testing

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