ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.1030C>A (p.Leu344Ile)

dbSNP: rs377513152
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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 RCV001897365 SCV002149816 uncertain significance Muscle AMP deaminase deficiency 2022-08-31 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1382041). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with AMPD1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 377 of the AMPD1 protein (p.Leu377Ile).
Breakthrough Genomics, Breakthrough Genomics RCV004691454 SCV005186834 uncertain significance not provided criteria provided, single submitter not provided

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