ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.3886G>A (p.Val1296Met)

gnomAD frequency: 0.00001  dbSNP: rs757728167
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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 RCV001036540 SCV001199908 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2022-08-15 criteria provided, single submitter clinical testing 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: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 835613). This variant has not been reported in the literature in individuals affected with IFT172-related conditions. This variant is present in population databases (rs757728167, gnomAD 0.006%). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 1296 of the IFT172 protein (p.Val1296Met). 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.
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV001724214 SCV001950289 uncertain significance Retinitis pigmentosa 2021-04-01 criteria provided, single submitter curation The p.Val1296Met variant in IFT172 was identified in an individual with Retinitis pigmentosa, via a collaborative study between the Broad Institute's Center for Mendelian Genomics and the Pierce lab (https://oculargenomics.meei.harvard.edu/labs/pierce-lab/lab-members/). Through a review of available evidence we were able to apply the following criteria: PM2. Based on this evidence we have classified this variant as a Variant of Uncertain Significance. If you have any questions about the classification please reach out to the Pierce Lab.
Ambry Genetics RCV002551362 SCV003687561 uncertain significance Inborn genetic diseases 2022-11-10 criteria provided, single submitter clinical testing The c.3886G>A (p.V1296M) alteration is located in exon 35 (coding exon 35) of the IFT172 gene. This alteration results from a G to A substitution at nucleotide position 3886, causing the valine (V) at amino acid position 1296 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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