ClinVar Miner

Submissions for variant NM_003334.4(UBA1):c.1052A>G (p.Asn351Ser)

gnomAD frequency: 0.00002  dbSNP: rs782429883
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000811412 SCV000951678 uncertain significance Infantile-onset X-linked spinal muscular atrophy 2024-09-09 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 351 of the UBA1 protein (p.Asn351Ser). This variant is present in population databases (rs782429883, gnomAD 0.006%), including at least one homozygous and/or hemizygous individual. This variant has not been reported in the literature in individuals affected with UBA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 655276). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Ambry Genetics RCV002538097 SCV003572005 uncertain significance Inborn genetic diseases 2021-08-10 criteria provided, single submitter clinical testing The c.1052A>G (p.N351S) alteration is located in exon 10 (coding exon 9) of the UBA1 gene. This alteration results from a A to G substitution at nucleotide position 1052, causing the asparagine (N) at amino acid position 351 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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