ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.3598G>A (p.Ala1200Thr)

dbSNP: rs377521375
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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 RCV001062770 SCV001227589 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2022-07-26 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with IFT172-related conditions. 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 857153). This variant is present in population databases (rs377521375, gnomAD 0.006%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1200 of the IFT172 protein (p.Ala1200Thr).
Fulgent Genetics, Fulgent Genetics RCV005029646 SCV005656030 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 2024-05-10 criteria provided, single submitter clinical testing

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