ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.302del (p.Gly101fs) (rs761606317)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000483135 SCV000574253 pathogenic not provided 2017-03-16 criteria provided, single submitter clinical testing The c.302delG variant in the ARSA gene has been previously reported in an individual with lateinfantile metachromatic leukodystrophy. This individual was also found to be heterozygous foranother variant in the ARSA gene (Chen et al., 2016). The deletion causes a frameshift starting withcodon Glycine 101, changes this amino acid to an Alanine residue and creates a premature Stop codonat position 7 of the new reading frame, denoted p.G101AfsX7. This variant is predicted to cause lossof normal protein function either through protein truncation or nonsense-mediated mRNA decay. Thec.302delG 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). In summary, we interpret thisvariant as pathogenic.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000483135 SCV000704696 pathogenic not provided 2017-01-06 criteria provided, single submitter clinical testing

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