ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.688A>G (p.Lys230Glu)

gnomAD frequency: 0.00042  dbSNP: rs138705920
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002033844 SCV002286891 uncertain significance Muscle AMP deaminase deficiency 2023-12-21 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 263 of the AMPD1 protein (p.Lys263Glu). This variant is present in population databases (rs138705920, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with AMPD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1498037). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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.
Ambry Genetics RCV002642051 SCV003681613 uncertain significance Inborn genetic diseases 2021-07-21 criteria provided, single submitter clinical testing The c.787A>G (p.K263E) alteration is located in exon 6 (coding exon 6) of the AMPD1 gene. This alteration results from a A to G substitution at nucleotide position 787, causing the lysine (K) at amino acid position 263 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV002033844 SCV003826267 uncertain significance Muscle AMP deaminase deficiency 2020-01-13 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004691485 SCV005186835 uncertain significance not provided criteria provided, single submitter not provided

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