ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.323C>T (p.Thr108Ile)

dbSNP: rs547487220
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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 RCV000699403 SCV000828111 likely benign Muscle AMP deaminase deficiency 2023-09-27 criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV000699403 SCV005400821 uncertain significance Muscle AMP deaminase deficiency criteria provided, single submitter clinical testing The observed missense c.323C>T(p.Thr108Ile) variant in AMPD1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Thr108Ile variant is present with allele frequency 0.02% in gnomAD Exomes. This variant has been submitted to the ClinVar database as Likely Benign. Multiple lines of computational evidence (SIFT - Tolerated and MutationTaster - Polymorphism) predict no damaging effect on protein structure and function for this variant. The reference amino acid of p.Thr108Ile in AMPD1 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Thr at position 108 is changed to a Ile changing protein sequence and it might alter its composition and physico-chemical properties. Additional functional stuides will be required to prove the pathogenicity of this variant. For these reasons, this variant has been classified as Variant of Uncertain Significance (VUS).

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