ClinVar Miner

Submissions for variant NM_003896.4(ST3GAL5):c.601G>A (p.Gly201Arg) (rs771732955)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000240856 SCV001228015 likely pathogenic Salt and pepper developmental regression syndrome 2019-12-11 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 201 of the ST3GAL5 protein (p.Gly201Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs771732955, ExAC 0.002%). This variant has been observed in individual(s) with reduced gangliosides in serum but atypical clinical features for GM3 synthase deficiency (PMID: 27232954). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 254246). 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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
OMIM RCV000240856 SCV000299339 pathogenic Salt and pepper developmental regression syndrome 2016-09-16 no assertion criteria provided literature only

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