ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.3450G>A (p.Met1150Ile)

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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 RCV003086387 SCV003482425 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2022-05-19 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 1150 of the IFT172 protein (p.Met1150Ile). This variant is present in population databases (rs147411312, gnomAD 0.01%). 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. 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.
New York Genome Center RCV003086387 SCV003925441 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2022-03-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV004985189 SCV005604273 uncertain significance Inborn genetic diseases 2024-10-24 criteria provided, single submitter clinical testing The c.3450G>A (p.M1150I) alteration is located in exon 31 (coding exon 31) of the IFT172 gene. This alteration results from a G to A substitution at nucleotide position 3450, causing the methionine (M) at amino acid position 1150 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005028227 SCV005656038 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 2024-01-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004738676 SCV005352749 uncertain significance IFT172-related disorder 2024-04-24 no assertion criteria provided clinical testing The IFT172 c.3450G>A variant is predicted to result in the amino acid substitution p.Met1150Ile. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.012% 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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