ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.6042C>G (p.His2014Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Wonkam Laboratory, Johns Hopkins University RCV004798703 SCV005420310 uncertain significance Autosomal recessive nonsyndromic hearing loss 2 2024-01-06 no assertion criteria provided research the variant NM_000260.4 c.6042C>G is located in a mutational hot spot and/or critical and well-established functional domain (PM1), Multiple lines of computational evidence support a deleterious effect on the gene or gene product (PP3), Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium (PM2), Cosegregation with disease in multiple affected family members in a gene definitively known to cause the disease (PP1), Patient's phenotype or family history is highly specific for a disease with a single genetic etiology (PP4)

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