ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.987G>C (p.Met329Ile)

gnomAD frequency: 0.00002  dbSNP: rs774051527
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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 RCV001325463 SCV001516456 uncertain significance Aspartylglucosaminuria 2022-08-22 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 329 of the AGA protein (p.Met329Ile). This variant is present in population databases (rs774051527, 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: 1025178). 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. RCV001325463 SCV002084879 uncertain significance Aspartylglucosaminuria 2020-03-04 no assertion criteria provided clinical testing

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