ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.3830G>A (p.Arg1277Gln)

gnomAD frequency: 0.00004  dbSNP: rs756683299
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000280924 SCV000332748 uncertain significance not provided 2015-07-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001043480 SCV001207230 uncertain significance Saldino-Mainzer syndrome 2022-06-30 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 1277 of the IFT140 protein (p.Arg1277Gln). This variant is present in population databases (rs756683299, gnomAD 0.03%). 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: 281775). 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.
Fulgent Genetics, Fulgent Genetics RCV005016667 SCV005642708 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2024-03-26 criteria provided, single submitter clinical testing

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