ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.1649G>C (p.Arg550Pro)

dbSNP: rs762399912
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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 RCV001915060 SCV002168018 uncertain significance Saldino-Mainzer syndrome 2023-08-04 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on IFT140 protein function. ClinVar contains an entry for this variant (Variation ID: 1398443). This variant has not been reported in the literature in individuals affected with IFT140-related conditions. This variant is present in population databases (rs762399912, gnomAD 0.01%). This sequence change replaces arginine, which is basic and polar, with proline, which is neutral and non-polar, at codon 550 of the IFT140 protein (p.Arg550Pro).
Fulgent Genetics, Fulgent Genetics RCV002490180 SCV002779781 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2021-09-02 criteria provided, single submitter clinical testing

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