ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.1210+1G>A (rs80338820)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723835 SCV000232062 pathogenic not provided 2014-06-13 criteria provided, single submitter clinical testing
Invitae RCV000020312 SCV000627137 pathogenic Metachromatic leukodystrophy 2017-01-24 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 7 of the ARSA gene. While the encoded mRNA may escape nonsense mediated decay because this variant is located in the last intron, it is expected to disrupt RNA splicing and likely results in disrupted protein product. This variant is present in population databases (rs80338820, ExAC 0.002%). This variant is a prevalent metachromatic leukodystrophy (MLD) variant that has been reported as homozygous or compound heterozygous in multiple individuals affected with MLD (PMID: 1684088, 19021637, 16110195, Invitae). This variant is also known as c.1204+1G>A and E7S2195 in the literature. ClinVar contains an entry for this variant (Variation ID: 3058). Analyses of fibroblasts from compound heterozygous individuals are consistent with this variant causing a loss of enzyme activity (PMID: 1684088). For these reasons, this variant has been classified as Pathogenic.
Athena Diagnostics Inc RCV000723835 SCV001143056 pathogenic not provided 2019-03-14 criteria provided, single submitter clinical testing The variant disrupts a canonical splice site, and is therefore predicted to result in the loss of a functional protein. Found in at least one symptomatic patient and found in general population data that is consistent with pathogenicity. Predicted to negatively affect a known splice site.
OMIM RCV000003204 SCV000023362 pathogenic Metachromatic leukodystrophy, juvenile type 1991-12-01 no assertion criteria provided literature only
GeneReviews RCV000020312 SCV000040687 pathologic Metachromatic leukodystrophy 2011-08-25 no assertion criteria provided curation Converted during submission to Pathogenic.
Counsyl RCV000020312 SCV000678127 pathogenic Metachromatic leukodystrophy 2015-06-13 no assertion criteria provided clinical testing

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