ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.1264del (p.Ser421_Leu422insTer) (rs755635209)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000483720 SCV000574339 likely pathogenic not provided 2017-03-17 criteria provided, single submitter clinical testing The c.1264delC variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The c.1264delC variant in the causes the Leucine codon at position 422 to be replaced by a termination codon, denoted p.Leu422Ter. This variant is predicted to cause loss of normal protein function through protein truncation. In summary, we interpret c.1264delC as likely pathogenic.
Counsyl RCV000673517 SCV000798728 likely pathogenic Metachromatic leukodystrophy 2018-03-22 no assertion criteria provided clinical testing

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