ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.5488dup (p.Glu1830fs)

dbSNP: rs1555105135
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668610 SCV000793242 likely pathogenic Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 2017-08-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003403551 SCV004105068 likely pathogenic MYO7A-related condition 2023-07-25 criteria provided, single submitter clinical testing The MYO7A c.5488dupG variant is predicted to result in a frameshift and premature protein termination (p.Glu1830Glyfs*81). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Frameshift variants in MYO7A are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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