ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.2194A>G (p.Lys732Glu) (rs148168494)

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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 RCV000041270 SCV000064961 uncertain significance not specified 2011-11-08 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Lys732Glu varia nt in USH1C has not been reported in the literature nor previously identified by our laboratory. However, this variant was observed in a broad population (dbSN P rs148168494) suggesting it could occur with reasonable frequency in the genera l population. Computational analyses (biochemical amino acid properties, homolog y, PolyPhen2, SIFT, AlignGVGD) do not provide strong support for or against path ogenicity. In summary, the clinical significance of this variant cannot be deter mined at this time; however, based on identification of this variant in this ind ividual who has another cause for their clinical features and in dbSNP we would lean towards a more likely benign role.
Counsyl RCV000666460 SCV000790757 uncertain significance Usher syndrome, type 1C; Deafness, autosomal recessive 18 2017-04-24 criteria provided, single submitter clinical testing

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