ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.4612G>A (p.Ala1538Thr)

gnomAD frequency: 0.00002  dbSNP: rs770733075
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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 RCV001959794 SCV002217008 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2023-09-27 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt IFT172 protein function. ClinVar contains an entry for this variant (Variation ID: 1432136). This variant has not been reported in the literature in individuals affected with IFT172-related conditions. This variant is present in population databases (rs770733075, gnomAD 0.02%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1538 of the IFT172 protein (p.Ala1538Thr).
New York Genome Center RCV001959794 SCV003925380 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2022-03-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004552120 SCV004118222 uncertain significance IFT172-related disorder 2023-12-04 criteria provided, single submitter clinical testing The IFT172 c.4612G>A variant is predicted to result in the amino acid substitution p.Ala1538Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.023% of alleles in individuals of South Asian 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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