ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.953G>A (p.Arg318Gln)

gnomAD frequency: 0.00003  dbSNP: rs779572697
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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 RCV001345834 SCV001539980 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2020-08-24 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. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with IFT172-related conditions. This variant is present in population databases (rs779572697, ExAC 0.001%). This sequence change replaces arginine with glutamine at codon 318 of the IFT172 protein (p.Arg318Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine.
Fulgent Genetics, Fulgent Genetics RCV005014460 SCV005651485 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 2024-06-17 criteria provided, single submitter clinical testing

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