ClinVar Miner

Submissions for variant NM_012243.3(SLC35A3):c.74G>A (p.Arg25His)

gnomAD frequency: 0.00002  dbSNP: rs903783945
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000818416 SCV000959027 uncertain significance Autism spectrum disorder - epilepsy - arthrogryposis syndrome 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 25 of the SLC35A3 protein (p.Arg25His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant disrupts the p.Arg25 amino acid residue in SLC35A3. Other variant(s) that disrupt this residue have been observed in individuals with SLC35A3-related conditions (PMID: 28328131, 28777481), which suggests that this may be a clinically significant amino acid residue. 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.
Fulgent Genetics, Fulgent Genetics RCV000818416 SCV002776023 uncertain significance Autism spectrum disorder - epilepsy - arthrogryposis syndrome 2021-12-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV000818416 SCV002094597 uncertain significance Autism spectrum disorder - epilepsy - arthrogryposis syndrome 2020-12-17 no assertion criteria provided clinical testing

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