ClinVar Miner

Submissions for variant NM_014425.5(INVS):c.1256T>C (p.Val419Ala)

gnomAD frequency: 0.00001  dbSNP: rs1212072950
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001068573 SCV001233694 uncertain significance Nephronophthisis 2019-01-26 criteria provided, single submitter clinical testing This sequence change replaces valine with alanine at codon 419 of the INVS protein (p.Val419Ala). The valine residue is highly conserved and there is a small physicochemical difference between valine and alanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with INVS-related conditions. 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: "Benign"; Align-GVGD: "Class C55"). 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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