ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.116C>A (p.Ser39Tyr)

gnomAD frequency: 0.00003  dbSNP: rs758334449
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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 RCV001937508 SCV002129195 uncertain significance Muscle AMP deaminase deficiency 2023-10-13 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with tyrosine, which is neutral and polar, at codon 72 of the AMPD1 protein (p.Ser72Tyr). This variant is present in population databases (rs758334449, gnomAD 0.009%). 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: 1364687). 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.

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