ClinVar Miner

Submissions for variant NM_014425.5(INVS):c.349C>G (p.Pro117Ala)

gnomAD frequency: 0.00001  dbSNP: rs1021818693
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002028005 SCV002310732 uncertain significance Nephronophthisis 2023-11-27 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 117 of the INVS protein (p.Pro117Ala). This variant is present in population databases (no rsID available, gnomAD 0.01%). 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: 1521935). 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.
Fulgent Genetics, Fulgent Genetics RCV002486770 SCV002788471 uncertain significance Infantile nephronophthisis 2024-05-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002549005 SCV003644378 uncertain significance Inborn genetic diseases 2022-09-07 criteria provided, single submitter clinical testing The c.349C>G (p.P117A) alteration is located in exon 4 (coding exon 3) of the INVS gene. This alteration results from a C to G substitution at nucleotide position 349, causing the proline (P) at amino acid position 117 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004753479 SCV005365179 uncertain significance INVS-related disorder 2024-05-08 no assertion criteria provided clinical testing The INVS c.349C>G variant is predicted to result in the amino acid substitution p.Pro117Ala. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0018% of alleles in individuals of European (Non-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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