Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic 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. |
Uni |
RCV000058946 | SCV000090467 | not provided | not provided | no assertion provided | not provided |