ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.1221C>G (p.Ile407Met)

gnomAD frequency: 0.00001  dbSNP: rs144014236
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002049967 SCV002115696 uncertain significance Muscle AMP deaminase deficiency 2022-07-06 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 440 of the AMPD1 protein (p.Ile440Met). This variant is present in population databases (rs144014236, gnomAD 0.006%). 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: 1345886). 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 C0"). 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 RCV004038730 SCV004896386 uncertain significance Inborn genetic diseases 2023-11-27 criteria provided, single submitter clinical testing The c.1320C>G (p.I440M) alteration is located in exon 9 (coding exon 9) of the AMPD1 gene. This alteration results from a C to G substitution at nucleotide position 1320, causing the isoleucine (I) at amino acid position 440 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV004691449 SCV005186833 uncertain significance not provided criteria provided, single submitter not provided

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