ClinVar Miner

Submissions for variant NM_018713.3(SLC30A10):c.581G>A (p.Arg194Gln)

dbSNP: rs1193990191
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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 RCV002034155 SCV002310724 uncertain significance not provided 2021-09-03 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SLC30A10-related conditions. This sequence change replaces arginine with glutamine at codon 194 of the SLC30A10 protein (p.Arg194Gln). The arginine residue is weakly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is not present in population databases (ExAC no frequency). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.

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