ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.2122G>A (p.Val708Met)

gnomAD frequency: 0.00009  dbSNP: rs140506322
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001213964 SCV001385626 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2022-08-31 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 708 of the IFT172 protein (p.Val708Met). This variant is present in population databases (rs140506322, 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: 943712). 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: "Possibly 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.
GeneDx RCV001586057 SCV001812680 uncertain significance not provided 2020-04-06 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004986952 SCV005604252 uncertain significance Inborn genetic diseases 2024-10-25 criteria provided, single submitter clinical testing The c.2122G>A (p.V708M) 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 2122, causing the valine (V) at amino acid position 708 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005021513 SCV005651431 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 2024-02-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004548071 SCV004111296 uncertain significance IFT172-related disorder 2024-06-03 no assertion criteria provided clinical testing The IFT172 c.2122G>A variant is predicted to result in the amino acid substitution p.Val708Met. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.024% of alleles in individuals of European (Non-Finnish) 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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