ClinVar Miner

Submissions for variant NM_014425.5(INVS):c.2035G>T (p.Asp679Tyr)

gnomAD frequency: 0.00001  dbSNP: rs751056550
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001372479 SCV001569146 uncertain significance Nephronophthisis 2021-09-02 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with tyrosine at codon 679 of the INVS protein (p.Asp679Tyr). The aspartic acid residue is moderately conserved and there is a large physicochemical difference between aspartic acid and tyrosine. This variant is present in population databases (rs751056550, ExAC 0.009%). This variant has not been reported in the literature in individuals affected 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: "Possibly Damaging"; Align-GVGD: "Class C15"). 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004800998 SCV005423539 uncertain significance not specified 2024-10-02 criteria provided, single submitter clinical testing Variant summary: INVS c.2035G>T (p.Asp679Tyr) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 1.2e-05 in 248570 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.2035G>T in individuals affected with Infantile Nephronophthisis and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 1062732). Based on the evidence outlined above, the variant was classified as uncertain significance.
Fulgent Genetics, Fulgent Genetics RCV005040230 SCV005679541 uncertain significance Infantile nephronophthisis 2024-05-24 criteria provided, single submitter clinical testing

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