ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.854+1G>T (rs886041911)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000263067 SCV000330711 pathogenic not provided 2016-08-03 criteria provided, single submitter clinical testing The c.854+1G>T pathogenic variant in the ARSA gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This splice site variant destroys the canonical splice donor site in intron 4. 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.854+1G>T variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. A nucleotide change in the same position (c.854+1G>A) has been reported in the Human Gene Mutation Database in association with metachromatic leukodystrophy (Stenson et al., 2014), supporting the importance of this splice donor site. We interpret c.854+1G>T as a pathogenic variant.

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