Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000667567 | SCV000792041 | uncertain significance | Metachromatic leukodystrophy | 2017-06-08 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV000667567 | SCV002291102 | likely pathogenic | Metachromatic leukodystrophy | 2023-06-05 | criteria provided, single submitter | clinical testing | In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant is associated with altered splicing resulting in multiple RNA products (PMID: 18693274). ClinVar contains an entry for this variant (Variation ID: 552329). This variant is also known as c.1102-3C>G. This variant has been observed in individuals with metachromatic leukodystrophy (PMID: 18693274, 26462614). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change falls in intron 6 of the ARSA gene. It does not directly change the encoded amino acid sequence of the ARSA protein. It affects a nucleotide within the consensus splice site. |