ClinVar Miner

Submissions for variant NM_000026.4(ADSL):c.616G>T (p.Ala206Ser) (rs148411623)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000766357 SCV000240241 uncertain significance not provided 2018-12-21 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ADSL gene. The A206S variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge.The A206S variant is observed in 129/24034 (0.5%) alleles from individuals of African background in large population cohorts (Lek et al., 2016). The A206S variant is a non-conservative amino acidsubstitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. The A206S variant occurs at a position that is conserved across species, and in-silico analysis predicts this variant is probably damaging to the protein structure/function. Based on the currently available information, it is unclear whether this variant is apathogenic variant or a rare benign variant.
Invitae RCV001082607 SCV000558606 likely benign Adenylosuccinate lyase deficiency 2020-12-04 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000186675 SCV000709452 likely benign not specified 2017-06-27 criteria provided, single submitter clinical testing

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