ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.2458G>A (p.Ala820Thr) (rs397517878)

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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 RCV000041280 SCV000064971 uncertain significance not specified 2011-10-10 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Ala820Thr varia nt in USH1C has not been reported in the literature nor previously identified by our laboratory. Computational analyses (biochemical amino acid properties, Poly Phen2, SIFT, AlignGVGD) do not provide strong support for pathogenicity. However , this information is not accurate enough to rule out pathogenicity. In the abse nce of additional information, such as identification of a second USH1C variant in this individual, control data, segregation studies or functional analysis, th e clinical significance of this variant cannot be determined at this time; howev er, we would lean towards a more likely benign role given the computational pred iction assessment.
Counsyl RCV000669772 SCV000794555 uncertain significance Usher syndrome, type 1C; Deafness, autosomal recessive 18 2017-09-28 criteria provided, single submitter clinical testing

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