ClinVar Miner

Submissions for variant NM_054012.4(ASS1):c.772G>A (p.Ala258Thr)

gnomAD frequency: 0.00003  dbSNP: rs765748014
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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 RCV002564018 SCV001415221 uncertain significance Citrullinemia 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 258 of the ASS1 protein (p.Ala258Thr). This variant is present in population databases (rs765748014, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with ASS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 967278). 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: "Benign"; Align-GVGD: "Class C0"). 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 RCV004671293 SCV005169517 uncertain significance Inborn genetic diseases 2024-05-24 criteria provided, single submitter clinical testing The c.772G>A (p.A258T) alteration is located in exon 11 (coding exon 9) of the ASS1 gene. This alteration results from a G to A substitution at nucleotide position 772, causing the alanine (A) at amino acid position 258 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001242153 SCV002085090 uncertain significance Citrullinemia type I 2020-04-28 no assertion criteria provided clinical testing

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