ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.538G>A (p.Gly180Arg)

gnomAD frequency: 0.00004  dbSNP: rs373865451
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000487843 SCV000109774 uncertain significance not provided 2012-12-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000487843 SCV000575421 uncertain significance not provided 2016-09-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000805387 SCV000945341 uncertain significance Aspartylglucosaminuria 2022-02-25 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 180 of the AGA protein (p.Gly180Arg). This variant is present in population databases (rs373865451, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with AGA-related conditions. ClinVar contains an entry for this variant (Variation ID: 92309). 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. RCV000805387 SCV001461149 uncertain significance Aspartylglucosaminuria 2020-04-16 no assertion criteria provided clinical testing

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