ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.4351A>G (p.Thr1451Ala)

gnomAD frequency: 0.00001  dbSNP: rs761701917
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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 RCV001992359 SCV002221179 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces threonine with alanine at codon 1451 of the IFT172 protein (p.Thr1451Ala). The threonine residue is moderately conserved and there is a small physicochemical difference between threonine and alanine. This variant is present in population databases (rs761701917, ExAC 0.001%). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 RCV002497834 SCV002780353 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 2021-11-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002562892 SCV003609544 uncertain significance Inborn genetic diseases 2022-02-10 criteria provided, single submitter clinical testing The c.4351A>G (p.T1451A) alteration is located in exon 40 (coding exon 40) of the IFT172 gene. This alteration results from a A to G substitution at nucleotide position 4351, causing the threonine (T) at amino acid position 1451 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV003442969 SCV004168582 uncertain significance not provided 2023-04-11 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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