ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.2612G>A (p.Arg871His)

dbSNP: rs905240853
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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 RCV001209906 SCV001381362 uncertain significance Saldino-Mainzer syndrome 2022-10-05 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: 940336). This variant has not been reported in the literature in individuals affected with IFT140-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 871 of the IFT140 protein (p.Arg871His).
Fulgent Genetics, Fulgent Genetics RCV002480691 SCV002780124 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2022-02-16 criteria provided, single submitter clinical testing

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