ClinVar Miner

Submissions for variant NM_001097577.3(ANG):c.155G>A (p.Ser52Asn)

gnomAD frequency: 0.00001  dbSNP: rs121909542
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000019706 SCV002572430 likely pathogenic Amyotrophic lateral sclerosis type 9 2022-08-30 criteria provided, single submitter clinical testing Variant summary: ANG c.155G>A (p.Ser52Asn) results in a conservative amino acid change located in the Ribonuclease A-domain (IPR023412) adjacent to the nuclear localization sequence (NLS) of the encoded protein. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 4e-06 in 251492 control chromosomes. c.155G>A has been reported in the literature in at-least one individual affected with Amyotrophic Lateral Sclerosis Type 9 who continues to be cited by others (example, Wu_2007, Narain_2019). At least one publication reports experimental evidence evaluating an impact on protein function (Wu_2007). The most pronounced variant effect results in loss of both ribonucleotytic activity and nuclear translocation activity. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.
OMIM RCV000019706 SCV000040004 pathogenic Amyotrophic lateral sclerosis type 9 2007-12-01 no assertion criteria provided literature only

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