ClinVar Miner

Submissions for variant NM_012243.3(SLC35A3):c.191G>A (p.Cys64Tyr)

dbSNP: rs1658606601
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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 RCV001224017 SCV001396191 uncertain significance Autism spectrum disorder - epilepsy - arthrogryposis syndrome 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces cysteine with tyrosine at codon 64 of the SLC35A3 protein (p.Cys64Tyr). The cysteine residue is moderately conserved and there is a large physicochemical difference between cysteine and tyrosine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with SLC35A3-related conditions. 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.

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