ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.143C>T (p.Pro48Leu)

gnomAD frequency: 0.08857  dbSNP: rs61752479
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000416093 SCV000493334 uncertain significance not provided 2018-06-01 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000416093 SCV000854815 other not provided 2018-02-07 criteria provided, single submitter clinical testing
Invitae RCV001514920 SCV001722883 benign Muscle AMP deaminase deficiency 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000416093 SCV001896059 benign not provided 2021-06-09 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 1631143, 33250842, 21228398, 20981092)
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital RCV001514920 SCV001984222 benign Muscle AMP deaminase deficiency 2020-01-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003974929 SCV004789122 likely benign AMPD1-related disorder 2023-12-01 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Clinical Genomics Program, Stanford Medicine RCV001514920 SCV004100860 uncertain significance Muscle AMP deaminase deficiency 2021-01-06 no assertion criteria provided clinical testing The p.Pro81Leu variant in the AMPD1 gene has been previously reported in 11 unrelated individuals with reported AMPD deficiency (Morisaki et al., 1992). Of note, all individuals were homozygous for this variant as well as the p.Gln45* variant. The highest allele frequency of the p.Pro81Leu variant was identified in the European population at 17,214/129,128 chromosomes (13.33%) by the Genome Aggregation Database ( Computational tools predict that the p.Pro81Leu variant is deleterious; however, the accuracy of in silico algorithms is limited. These data were assessed using the ACMG/AMP variant interpretation guidelines. In summary, the significance of the p.Pro81Leu variant is uncertain. Additional information is needed to resolve the significance of this variant. [ACMG evidence codes used: PP3]

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