ClinVar Miner

Submissions for variant NM_054012.4(ASS1):c.247T>C (p.Tyr83His)

gnomAD frequency: 0.00001  dbSNP: rs753659761
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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 RCV001295009 SCV001483917 uncertain significance Citrullinemia 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with histidine at codon 83 of the ASS1 protein (p.Tyr83His). The tyrosine residue is highly conserved and there is a moderate physicochemical difference between tyrosine and histidine. This variant is present in population databases (rs753659761, ExAC 0.002%). This missense change has been observed in individual(s) with citrullinemia (Invitae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. 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.
Natera, Inc. RCV001830121 SCV002085058 uncertain significance Citrullinemia type I 2020-06-29 no assertion criteria provided clinical testing

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