ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.35-7_35-4del

dbSNP: rs398123114
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000077972 SCV000109801 pathogenic not provided 2013-03-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001078885 SCV001099710 likely benign Muscle AMP deaminase deficiency 2024-01-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004782049 SCV005395717 uncertain significance not specified 2024-09-04 criteria provided, single submitter clinical testing Variant summary: AMPD1 c.35-7_35-4delCTTT alters conserved nucleotides located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. Consensus agreement among computation tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.00054 in 251474 control chromosomes. This frequency is not significantly higher than estimated for a pathogenic variant in AMPD1 causing Muscle AMP Deaminase Deficiency, allowing no conclusion about variant significance. c.35-7_35-4delCTTT has been reported in the literature in two siblings affected with Myoadenylate deaminase deficiency by only screening AMPD1 gene (Isackson_2005). These report(s) do not provide unequivocal conclusions about association of the variant with Muscle AMP Deaminase Deficiency. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 16040263). ClinVar contains an entry for this variant (Variation ID: 92332). Based on the evidence outlined above, the variant was classified as uncertain significance.

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