ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.401T>A (p.Ile134Asn) (rs111033181)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036134 SCV000059786 likely pathogenic Rare genetic deafness 2011-03-25 criteria provided, single submitter clinical testing The Ile134Asn variant in MYO7A has been reported in one proband with Usher syndr ome Type I and was absent in 172 control chromosomes (Bharadwaj 2000). We have a lso observed this variant in another patient with Usher syndrome with a pathogen ic variant on the other allele. In addition, this residue is highly conserved ac ross species and computational analyses (biochemical amino acid properties, homo logy, PolyPhen2, SIFT) suggest that the variant may impact the protein. In summa ry, this data suggests this variant is likely pathogenic.
Counsyl RCV000673536 SCV000798748 likely pathogenic Deafness, autosomal recessive 2; Usher syndrome, type 1 2018-03-23 criteria provided, single submitter clinical testing

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