ClinVar Miner

Submissions for variant NM_014425.5(INVS):c.1492A>T (p.Asn498Tyr)

dbSNP: rs1832737510
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001323935 SCV001514870 uncertain significance Nephronophthisis 2020-10-10 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals with INVS-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces asparagine with tyrosine at codon 498 of the INVS protein (p.Asn498Tyr). The asparagine residue is highly conserved and there is a large physicochemical difference between asparagine and tyrosine.

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