ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.3001G>C (p.Asp1001His)

dbSNP: rs1666300541
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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 RCV001957060 SCV002249365 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2021-08-29 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with IFT172-related conditions. This sequence change replaces aspartic acid with histidine at codon 1001 of the IFT172 protein (p.Asp1001His). The aspartic acid residue is highly conserved and there is a moderate physicochemical difference between aspartic acid and histidine.
Fulgent Genetics, Fulgent Genetics RCV005016967 SCV005651377 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 2024-03-29 criteria provided, single submitter clinical testing

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