ClinVar Miner

Submissions for variant NM_003334.4(UBA1):c.1150C>T (p.Arg384Trp)

gnomAD frequency: 0.00004  dbSNP: rs148642741
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001303078 SCV001492312 uncertain significance Infantile-onset X-linked spinal muscular atrophy 2021-04-24 criteria provided, single submitter clinical testing 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. 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 has not been reported in the literature in individuals with UBA1-related conditions. This variant is present in population databases (rs148642741, ExAC 0.01%). This sequence change replaces arginine with tryptophan at codon 384 of the UBA1 protein (p.Arg384Trp). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and tryptophan.
CeGaT Center for Human Genetics Tuebingen RCV003457992 SCV004184890 uncertain significance not provided 2023-11-01 criteria provided, single submitter clinical testing UBA1: PM2
Ambry Genetics RCV004036262 SCV004975318 uncertain significance Inborn genetic diseases 2024-01-29 criteria provided, single submitter clinical testing The c.1150C>T (p.R384W) alteration is located in exon 11 (coding exon 10) of the UBA1 gene. This alteration results from a C to T substitution at nucleotide position 1150, causing the arginine (R) at amino acid position 384 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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