ClinVar Miner

Submissions for variant NM_001097577.3(ANG):c.433C>T (p.Arg145Cys)

gnomAD frequency: 0.00001  dbSNP: rs565444731
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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 RCV001944827 SCV002131682 uncertain significance not provided 2022-09-07 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1366739). This variant is also known as p.R121C. This missense change has been observed in individual(s) with amyotrophic lateral sclerosis or Parkinson disease (PMID: 21621297, 22190368). This variant is present in population databases (rs565444731, gnomAD 0.01%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 145 of the ANG protein (p.Arg145Cys).
Revvity Omics, Revvity RCV003485739 SCV004234200 uncertain significance Amyotrophic lateral sclerosis type 9 2023-04-11 criteria provided, single submitter clinical testing

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