ClinVar Miner

Submissions for variant NM_014425.5(INVS):c.2285G>A (p.Arg762Gln)

gnomAD frequency: 0.00002  dbSNP: rs753540322
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000812658 SCV000952979 uncertain significance Nephronophthisis 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 762 of the INVS protein (p.Arg762Gln). This variant is present in population databases (rs753540322, gnomAD 0.003%). 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: 656274). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Fulgent Genetics, Fulgent Genetics RCV002501109 SCV002807005 uncertain significance Infantile nephronophthisis 2022-02-23 criteria provided, single submitter clinical testing

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