ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.1199G>A (p.Arg400His) (rs750721690)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000597888 SCV000707172 uncertain significance not provided 2018-09-06 criteria provided, single submitter clinical testing
Invitae RCV000597888 SCV001393440 uncertain significance not provided 2019-10-11 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 400 of the USH1C protein (p.Arg400His). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs750721690, ExAC 0.02%). This variant has not been reported in the literature in individuals with USH1C-related disease. ClinVar contains an entry for this variant (Variation ID: 500986). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0". The histidine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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