ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.1175G>A (p.Arg392Gln) (rs199476391)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000058946 SCV000110797 likely pathogenic not provided 2015-05-19 criteria provided, single submitter clinical testing
Counsyl RCV000150058 SCV000800617 uncertain significance Metachromatic leukodystrophy 2017-11-07 criteria provided, single submitter clinical testing
Invitae RCV000150058 SCV001205880 pathogenic Metachromatic leukodystrophy 2019-11-01 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 392 of the ARSA protein (p.Arg392Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs199476391, ExAC 0.01%). This variant has been observed to be homozygous or in combination with another ARSA variant in several individuals affected with metachromatic leukodystrophy (PMID: 9452102, 26462614, 20339381, Invitae). This variant is also known as Arg390Gln in the literature. ClinVar contains an entry for this variant (Variation ID: 68116). This variant has been reported to affect ARSA protein function (PMID: 9452102). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic.
UniProtKB/Swiss-Prot RCV000058946 SCV000090467 not provided not provided no assertion provided not provided

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