ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.2131G>A (p.Ala711Thr)

gnomAD frequency: 0.00009  dbSNP: rs144620711
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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 RCV001326078 SCV001517092 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2022-07-11 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 711 of the IFT172 protein (p.Ala711Thr). This variant is present in population databases (rs144620711, gnomAD 0.05%). 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: 1025726). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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 RCV002486310 SCV002780127 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 2022-02-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV004035190 SCV004886213 uncertain significance Inborn genetic diseases 2023-12-18 criteria provided, single submitter clinical testing The c.2131G>A (p.A711T) alteration is located in exon 21 (coding exon 21) of the IFT172 gene. This alteration results from a G to A substitution at nucleotide position 2131, causing the alanine (A) at amino acid position 711 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004548170 SCV004752085 uncertain significance IFT172-related disorder 2023-12-24 no assertion criteria provided clinical testing The IFT172 c.2131G>A variant is predicted to result in the amino acid substitution p.Ala711Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.044% of alleles in individuals of African 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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