ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.3470A>T (p.Gln1157Leu)

gnomAD frequency: 0.00001  dbSNP: rs772423904
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001226479 SCV001398794 uncertain significance Saldino-Mainzer syndrome 2022-07-12 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 1157 of the IFT140 protein (p.Gln1157Leu). This variant is present in population databases (rs772423904, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with IFT140-related conditions. ClinVar contains an entry for this variant (Variation ID: 954087). 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: "Tolerated"; 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.
Fulgent Genetics, Fulgent Genetics RCV002491715 SCV002775990 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2024-05-16 criteria provided, single submitter clinical testing

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