ClinVar Miner

Submissions for variant NM_001025603.2(RFX5):c.1109G>A (p.Arg370Lys)

dbSNP: rs1402328710
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001206960 SCV001378295 uncertain significance MHC class II deficiency 2022-12-25 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. 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. ClinVar contains an entry for this variant (Variation ID: 937852). This variant has not been reported in the literature in individuals affected with RFX5-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces arginine, which is basic and polar, with lysine, which is basic and polar, at codon 370 of the RFX5 protein (p.Arg370Lys).

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