ClinVar Miner

Submissions for variant NM_014425.5(INVS):c.2062C>T (p.Pro688Ser)

gnomAD frequency: 0.00001  dbSNP: rs769487492
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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 RCV001321916 SCV001512767 uncertain significance Nephronophthisis 2020-08-20 criteria provided, single submitter clinical testing 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. This sequence change replaces proline with serine at codon 688 of the INVS protein (p.Pro688Ser). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and serine. This variant is present in population databases (rs769487492, ExAC 0.009%). This variant has not been reported in the literature in individuals with INVS-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies.
Fulgent Genetics, Fulgent Genetics RCV005040181 SCV005679543 uncertain significance Infantile nephronophthisis 2024-01-22 criteria provided, single submitter clinical testing

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