ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.979A>G (p.Ser327Gly)

gnomAD frequency: 0.00029  dbSNP: rs369035792
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV002279970 SCV002568160 uncertain significance not provided 2022-05-31 criteria provided, single submitter clinical testing PM2
Labcorp Genetics (formerly Invitae), Labcorp RCV001280244 SCV003263280 uncertain significance Aspartylglucosaminuria 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 327 of the AGA protein (p.Ser327Gly). This variant is present in population databases (rs369035792, gnomAD 0.09%). 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: 991943). 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. 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. RCV001280244 SCV001467406 uncertain significance Aspartylglucosaminuria 2020-04-16 no assertion criteria provided clinical testing

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