ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.2204C>A (p.Ala735Asp)

gnomAD frequency: 0.00002  dbSNP: rs773174861
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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 RCV000549433 SCV000656443 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces alanine with aspartic acid at codon 735 of the IFT172 protein (p.Ala735Asp). The alanine residue is moderately conserved and there is a moderate physicochemical difference between alanine and aspartic acid. This variant is present in population databases (rs773174861, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with IFT172-related conditions. 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. 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.
Fulgent Genetics, Fulgent Genetics RCV002483491 SCV002790664 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 2021-12-30 criteria provided, single submitter clinical testing

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