ClinVar Miner

Submissions for variant NM_000026.4(ADSL):c.616G>T (p.Ala206Ser)

gnomAD frequency: 0.00155  dbSNP: rs148411623
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000766357 SCV000240241 uncertain significance not provided 2023-04-20 criteria provided, single submitter clinical testing Identified in a patient with Parkinson's disease (Oluwole et al., 2020); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 32019516)
Labcorp Genetics (formerly Invitae), Labcorp RCV001082607 SCV000558606 likely benign Adenylosuccinate lyase deficiency 2025-01-30 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000186675 SCV000709452 likely benign not specified 2017-06-27 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000186675 SCV004222721 uncertain significance not specified 2023-11-16 criteria provided, single submitter clinical testing Variant summary: ADSL c.616G>T (p.Ala206Ser) results in a conservative amino acid change located in the Fumarate lyase, N-terminal (IPR022761) of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.00044 in 251426 control chromosomes. To our knowledge, no occurrence of c.616G>T in individuals affected with Adenylosuccinate Lyase Deficiency and no experimental evidence demonstrating its impact on protein function have been reported. Three submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.
PreventionGenetics, part of Exact Sciences RCV003927731 SCV004746496 likely benign ADSL-related disorder 2020-01-02 no assertion criteria provided 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).

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