ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.2176G>A (p.Ala726Thr)

gnomAD frequency: 0.00002  dbSNP: rs188779949
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001960981 SCV002245078 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2022-05-19 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 726 of the IFT172 protein (p.Ala726Thr). This variant is present in population databases (rs188779949, gnomAD 0.009%). 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 RCV002484822 SCV002787115 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
Breakthrough Genomics, Breakthrough Genomics RCV004694052 SCV005187491 uncertain significance not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004552141 SCV004753673 uncertain significance IFT172-related disorder 2024-04-25 no assertion criteria provided clinical testing The IFT172 c.2176G>A variant is predicted to result in the amino acid substitution p.Ala726Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0085% 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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