ClinVar Miner

Submissions for variant NM_014425.5(INVS):c.1459A>C (p.Lys487Gln)

gnomAD frequency: 0.00016  dbSNP: rs398124271
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081627 SCV000113558 uncertain significance not provided 2012-08-07 criteria provided, single submitter clinical testing
Invitae RCV001041684 SCV001205311 uncertain significance Nephronophthisis 2022-08-22 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with glutamine, which is neutral and polar, at codon 487 of the INVS protein (p.Lys487Gln). This variant is present in population databases (rs398124271, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with INVS-related conditions. ClinVar contains an entry for this variant (Variation ID: 95595). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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