ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.5059C>T (p.Leu1687Phe)

gnomAD frequency: 0.00001  dbSNP: rs917873749
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000688035 SCV000815631 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2021-06-17 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 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 disease. This sequence change replaces leucine with phenylalanine at codon 1687 of the IFT172 protein (p.Leu1687Phe). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and phenylalanine.
Fulgent Genetics, Fulgent Genetics RCV002485613 SCV002785074 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 2022-01-04 criteria provided, single submitter clinical testing

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