ClinVar Miner

Submissions for variant NM_014425.5(INVS):c.166G>A (p.Val56Met)

gnomAD frequency: 0.00002  dbSNP: rs778036236
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001069160 SCV001234309 uncertain significance Nephronophthisis 2023-12-11 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 56 of the INVS protein (p.Val56Met). This variant is present in population databases (rs778036236, gnomAD 0.004%). 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: 862437). 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.
PreventionGenetics, part of Exact Sciences RCV004753201 SCV005365078 uncertain significance INVS-related disorder 2024-04-17 no assertion criteria provided clinical testing The INVS c.166G>A variant is predicted to result in the amino acid substitution p.Val56Met. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0046% of alleles in individuals of European (Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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