ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.1095C>A (p.Phe365Leu)

dbSNP: rs727505251
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000156773 SCV000206494 uncertain significance not specified 2014-08-19 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Phe365Leu varia nt in MYH14 has not been previously reported in individuals with hearing loss or in large populations studies. The phenylalanine (Phe) at position 365 is not c onserved in mammals or evolutionary distant species, with rat and mouse having a leucine (Leu) at this position, raising the possibility that a change at this p osition may be tolerated. Additional computational prediction tools suggest that the Phe365Leu variant may not impact the protein, though this information is no t predictive enough to rule out pathogenicity. In summary, while the clinical si gnificance of the Phe365Leu variant is uncertain, these data suggest that it is more likely to be benign.

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