ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.470C>T (p.Pro157Leu) (rs74315464)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000778670 SCV000915005 uncertain significance Metachromatic leukodystrophy 2018-08-15 criteria provided, single submitter clinical testing The ARSA c.470C>T (p.Pro157Leu) variant is a missense variant that has been reported in a compound heterozygous state in one individual with juvenile arylsulfatase A deficiency (Eng et al. 2003). The p.Pro157Leu variant was not found in 50 control individuals but is reported at a frequency of 0.000067 in the European (non-Finnish) population of the Genome Aggregation Database. This frequency is based on one allele in a region of good sequencing coverage, so the variant is presumed to be rare. The evidence for this variant is limited. The p.Pro157Leu variant is thus classified as a variant of unknown significance but suspicious for pathogenicity for arylsulfatase A deficiency. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
UniProtKB/Swiss-Prot RCV000058968 SCV000090489 not provided not provided no assertion provided not provided

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