ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.526C>T (p.Gln176Ter) (rs762284875)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409359 SCV000487297 likely pathogenic Metachromatic leukodystrophy 2016-11-09 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, Faculty of Medicine Siriraj Hospital,Mahidol University RCV000409359 SCV000930529 pathogenic Metachromatic leukodystrophy 2019-08-02 criteria provided, single submitter clinical testing The Gln176Ter, a null variant (nonsense) affecting ARSA gene has been reported together with Arg293Ter in one Taiwanese patient with late infantile metachromatic leukodystrophy (Liaw et al., 2015), and was at extremely low frequency in ExAC (0.000009, 1/115950) and GnomAD_exome (0.000008, 2/246212). In our tested patient, Gln176Ter was found in the heterozygous state in unknown phase with a variant of uncertain significance, Arg313Gln. In summary, the Gln176Ter variant meets our criteria to be classified as pathogenic (Richards et al., 2015) based upon a known mechanism of disease, extremely low frequency and the previous reported evidence.

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