ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.1058A>C (p.Tyr353Ser)

gnomAD frequency: 0.00001  dbSNP: rs1398708257
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000795292 SCV000934745 uncertain significance Muscle AMP deaminase deficiency 2023-04-25 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. 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. ClinVar contains an entry for this variant (Variation ID: 641932). 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 tyrosine, which is neutral and polar, with serine, which is neutral and polar, at codon 386 of the AMPD1 protein (p.Tyr386Ser).

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