ClinVar Miner

Submissions for variant NM_020800.3(IFT80):c.593C>T (p.Ser198Leu)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002933166 SCV003265393 uncertain significance Jeune thoracic dystrophy 2022-03-12 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 198 of the IFT80 protein (p.Ser198Leu). This variant is present in population databases (rs370411287, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with IFT80-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.
Ambry Genetics RCV004067063 SCV004885162 uncertain significance Inborn genetic diseases 2023-10-03 criteria provided, single submitter clinical testing The c.593C>T (p.S198L) alteration is located in exon 7 (coding exon 6) of the IFT80 gene. This alteration results from a C to T substitution at nucleotide position 593, causing the serine (S) at amino acid position 198 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005028028 SCV005657919 uncertain significance Asphyxiating thoracic dystrophy 2 2024-03-07 criteria provided, single submitter clinical testing

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