ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.3030C>A (p.His1010Gln)

gnomAD frequency: 0.00003  dbSNP: rs201607202
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002019294 SCV002284032 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2021-06-16 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with IFT172-related conditions. This variant is present in population databases (rs201607202, ExAC 0.009%). This sequence change replaces histidine with glutamine at codon 1010 of the IFT172 protein (p.His1010Gln). The histidine residue is moderately conserved and there is a small physicochemical difference between histidine and glutamine.
Fulgent Genetics, Fulgent Genetics RCV002486605 SCV002793655 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 2021-11-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004553616 SCV004716992 uncertain significance IFT172-related disorder 2024-01-02 no assertion criteria provided clinical testing The IFT172 c.3030C>A variant is predicted to result in the amino acid substitution p.His1010Gln. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0070% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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