ClinVar Miner

Submissions for variant NM_054012.4(ASS1):c.28G>C (p.Ala10Pro)

dbSNP: rs1845345016
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001044877 SCV001208698 uncertain significance Citrullinemia 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces alanine with proline at codon 10 of the ASS1 protein (p.Ala10Pro). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and proline. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with ASS1-related conditions. 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. 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.

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