ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.3181A>G (p.Thr1061Ala)

dbSNP: rs550525758
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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 RCV002034278 SCV002315392 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2021-07-17 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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. This variant has not been reported in the literature in individuals affected with IFT172-related conditions. This sequence change replaces threonine with alanine at codon 1061 of the IFT172 protein (p.Thr1061Ala). The threonine residue is moderately conserved and there is a small physicochemical difference between threonine and alanine.
Ambry Genetics RCV004982868 SCV005604262 uncertain significance Inborn genetic diseases 2024-09-10 criteria provided, single submitter clinical testing The c.3181A>G (p.T1061A) alteration is located in exon 29 (coding exon 29) of the IFT172 gene. This alteration results from a A to G substitution at nucleotide position 3181, causing the threonine (T) at amino acid position 1061 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005017096 SCV005649064 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 2024-06-01 criteria provided, single submitter clinical testing

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