ClinVar Miner

Submissions for variant NM_014425.5(INVS):c.890C>T (p.Ala297Val)

gnomAD frequency: 0.00001  dbSNP: rs759327541
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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 RCV001303994 SCV001493261 uncertain significance Nephronophthisis 2024-08-31 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 297 of the INVS protein (p.Ala297Val). This variant is present in population databases (rs759327541, gnomAD 0.002%). 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: 1006882). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
GeneDx RCV004770019 SCV005380088 uncertain significance not provided 2023-10-20 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV005040149 SCV005679497 uncertain significance Infantile nephronophthisis 2024-03-01 criteria provided, single submitter clinical testing

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