ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.3629G>A (p.Arg1210Gln)

gnomAD frequency: 0.00003  dbSNP: rs794729639
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Human Genetics, Children's Hospital of Philadelphia RCV000185540 SCV000238419 uncertain significance Autosomal dominant nonsyndromic hearing loss 4A 2015-01-29 no assertion criteria provided research This test identified a heterozygous variant (c.3506G>A; p.Arg1169Gln) in the MYH14 gene. This gene has been associated with an autosomal dominant hearing loss (DFNA4A;MIM: 600652). This variant is considered a variant of unknown significance, as it is a novel variant that has not been reported in literature and absent in reference databases.

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