ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.1739C>T (p.Thr580Ile)

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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 RCV002574139 SCV002935216 uncertain significance Muscle AMP deaminase deficiency 2022-06-04 criteria provided, single submitter clinical testing 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). 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 threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 613 of the AMPD1 protein (p.Thr613Ile).
Ambry Genetics RCV004982998 SCV005609809 uncertain significance Inborn genetic diseases 2024-10-29 criteria provided, single submitter clinical testing The c.1838C>T (p.T613I) alteration is located in exon 13 (coding exon 13) of the AMPD1 gene. This alteration results from a C to T substitution at nucleotide position 1838, causing the threonine (T) at amino acid position 613 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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