ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.146T>A (p.Ile49Asn)

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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 RCV002619529 SCV003500876 uncertain significance Muscle AMP deaminase deficiency 2022-06-04 criteria provided, single submitter clinical testing 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: "Possibly 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. This variant has not been reported in the literature in individuals affected with AMPD1-related conditions. This variant is present in population databases (rs767938874, gnomAD 0.002%). This sequence change replaces isoleucine, which is neutral and non-polar, with asparagine, which is neutral and polar, at codon 82 of the AMPD1 protein (p.Ile82Asn).
Ambry Genetics RCV004069027 SCV004896439 uncertain significance Inborn genetic diseases 2022-12-19 criteria provided, single submitter clinical testing The c.245T>A (p.I82N) alteration is located in exon 3 (coding exon 3) of the AMPD1 gene. This alteration results from a T to A substitution at nucleotide position 245, causing the isoleucine (I) at amino acid position 82 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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