ClinVar Miner

Submissions for variant NM_003334.4(UBA1):c.1853A>G (p.Tyr618Cys)

dbSNP: rs1556791125
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000557966 SCV000639854 uncertain significance Infantile-onset X-linked spinal muscular atrophy 2020-01-27 criteria provided, single submitter clinical testing In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a UBA1-related disease. This sequence change replaces tyrosine with cysteine at codon 618 of the UBA1 protein (p.Tyr618Cys). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and cysteine.

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