ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.2341G>A (p.Val781Ile)

gnomAD frequency: 0.00004  dbSNP: rs397517875
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000041274 SCV000064965 uncertain significance not specified 2011-03-08 criteria provided, single submitter clinical testing The Val781Ile variant in USH1C has not been reported in the literature nor previ ously identified by our laboratory. Computational analyses (biochemical amino ac id properties, homology, PolyPhen2, SIFT, AlignGVGD) do not provide strong suppo rt for or against pathogenicity. In summary, the clinical significance of this v ariant cannot be determined with certainty at this time.
Counsyl RCV000668855 SCV000793528 uncertain significance Usher syndrome type 1C; Autosomal recessive nonsyndromic hearing loss 18A 2017-08-24 criteria provided, single submitter clinical testing
Invitae RCV001852838 SCV002295011 uncertain significance not provided 2022-05-21 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 481 of the USH1C protein (p.Val481Ile). This variant is present in population databases (rs397517875, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with USH1C-related conditions. ClinVar contains an entry for this variant (Variation ID: 47998). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV001272250 SCV001454053 uncertain significance Usher syndrome type 1C 2020-09-16 no assertion criteria provided clinical testing

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