ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.1108-2A>G (rs398123411)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000482171 SCV000110792 pathogenic not provided 2012-11-01 criteria provided, single submitter clinical testing
GeneDx RCV000482171 SCV000567088 pathogenic not provided 2015-07-09 criteria provided, single submitter clinical testing The c.1108-2A>G variant in the ARSA gene has been reported previously (reported as c.1102-2A>G due to alternative nomenclature) in the homozygous state in association with metachromatic leukodystrophy in an 11-year-old (Luzi et al., 2013). This splice site substitution destroys the canonical splice acceptor site in intron 6. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. The c.1108-2A>G variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.1108-2A>G as a pathogenic variant.
Counsyl RCV000078932 SCV000797335 pathogenic Metachromatic leukodystrophy 2018-01-23 criteria provided, single submitter clinical testing
Baylor Genetics RCV000078932 SCV001520710 pathogenic Metachromatic leukodystrophy 2019-12-07 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City RCV000078932 SCV001469149 pathogenic Metachromatic leukodystrophy 2020-11-12 no assertion criteria provided clinical testing

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