ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.1986G>A (p.Met662Ile)

gnomAD frequency: 0.00053  dbSNP: rs115092288
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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 RCV001924113 SCV002199409 uncertain significance Muscle AMP deaminase deficiency 2024-01-22 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 695 of the AMPD1 protein (p.Met695Ile). This variant is present in population databases (rs115092288, gnomAD 0.06%). 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: 1424886). 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 disruptive. 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 RCV002560474 SCV003568470 uncertain significance Inborn genetic diseases 2021-09-16 criteria provided, single submitter clinical testing The c.2085G>A (p.M695I) alteration is located in exon 15 (coding exon 15) of the AMPD1 gene. This alteration results from a G to A substitution at nucleotide position 2085, causing the methionine (M) at amino acid position 695 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV001924113 SCV003826233 uncertain significance Muscle AMP deaminase deficiency 2019-06-27 criteria provided, single submitter clinical testing

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