ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.5149A>C (p.Met1717Leu)

gnomAD frequency: 0.00001  dbSNP: rs146309780
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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 RCV001243150 SCV001416287 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2019-11-07 criteria provided, single submitter clinical testing This sequence change replaces methionine with leucine at codon 1717 of the IFT172 protein (p.Met1717Leu). The methionine residue is moderately conserved and there is a small physicochemical difference between methionine and leucine. This variant is present in population databases (rs146309780, ExAC 0.001%). This variant has not been reported in the literature in individuals 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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 RCV002484339 SCV002790683 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 2021-12-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV004629516 SCV005121087 uncertain significance Inborn genetic diseases 2024-06-07 criteria provided, single submitter clinical testing The c.5149A>C (p.M1717L) alteration is located in exon 47 (coding exon 47) of the IFT172 gene. This alteration results from a A to C substitution at nucleotide position 5149, causing the methionine (M) at amino acid position 1717 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004813992 SCV005073254 uncertain significance Retinal dystrophy 2023-01-01 no assertion criteria provided clinical testing

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