ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.2650C>G (p.Arg884Gly)

dbSNP: rs554196965
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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 RCV001235118 SCV001407788 uncertain significance Saldino-Mainzer syndrome 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 884 of the IFT140 protein (p.Arg884Gly). This variant is present in population databases (rs554196965, 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: 635439). 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 RCV002487618 SCV002783656 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2022-02-03 criteria provided, single submitter clinical testing
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000786891 SCV000925790 likely pathogenic Retinitis pigmentosa 80 2018-11-05 no assertion criteria provided clinical testing

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