ClinVar Miner

Submissions for variant NM_145868.2(ANXA11):c.523G>A (p.Gly175Arg)

dbSNP: rs754594235
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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 RCV002526932 SCV002959579 uncertain significance not provided 2022-03-14 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 488355). This missense change has been observed in individual(s) with amyotrophic lateral sclerosis (PMID: 28469040). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 175 of the ANXA11 protein (p.Gly175Arg).
OMIM RCV000578135 SCV000679997 pathogenic Amyotrophic lateral sclerosis type 23 2018-01-29 no assertion criteria provided literature only

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