ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.2240A>G (p.Gln747Arg) (rs201600193)

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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 RCV000155312 SCV000204998 uncertain significance not specified 2013-07-26 criteria provided, single submitter clinical testing The Gln747Arg variant in USH1C has not been identified in individuals with heari ng loss, but has been identified in 0.02% (1/4400) of African American chromosom es from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs. washington.edu/EVS/; dbSNP rs201600193). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogeni c role. Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. It should be noted that this variant occurs in exon 20 o f USH1C that is expressed in the ear and not the eye and therefore would likely only be relevant to nonsyndromic hearing loss, not Usher syndrome. In summary, a dditional data is needed to determine the clinical significance of this variant.
Counsyl RCV000668570 SCV000793195 uncertain significance Usher syndrome, type 1C; Deafness, autosomal recessive 18 2017-08-01 criteria provided, single submitter clinical testing

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