ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.4307A>C (p.Lys1436Thr)

gnomAD frequency: 0.00006  dbSNP: rs377646246
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001549486 SCV001769643 uncertain significance not provided 2021-01-14 criteria provided, single submitter clinical testing In silico analysis supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001882625 SCV002124207 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with threonine, which is neutral and polar, at codon 1436 of the IFT172 protein (p.Lys1436Thr). This variant is present in population databases (rs377646246, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with IFT172-related conditions. ClinVar contains an entry for this variant (Variation ID: 1189197). 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. 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 RCV002495879 SCV002776235 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 2022-01-18 criteria provided, single submitter clinical testing

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