ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.898+1G>A

dbSNP: rs1751669303
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Diagnostics Department, Viafet Genomics Laboratory RCV001578807 SCV001806120 likely pathogenic Mucopolysaccharidosis type 6 2021-07-05 criteria provided, single submitter clinical testing This variant was reported as part of Carrier Screening testing performed in Viafet Genomics Laboratory where the patient was not affected with this condition. This variant is present in intron 4/7 in a position that is conserved across both transcripts of this gene. This variant is predicted by multiple in silico methods to have a deleterious effect on the protein structure and/or function. In addition, several loss-of-function variants are reported as disease causing in HGMD and/or ClinVar after this position.
Baylor Genetics RCV001578807 SCV004209203 pathogenic Mucopolysaccharidosis type 6 2023-08-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001578807 SCV004403222 likely pathogenic Mucopolysaccharidosis type 6 2022-11-09 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 4 of the ARSB gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in ARSB are known to be pathogenic (PMID: 17458871, 22133300). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ARSB-related conditions. ClinVar contains an entry for this variant (Variation ID: 1209659). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Dr.Nikuei Genetic Center RCV001578807 SCV005200346 pathogenic Mucopolysaccharidosis type 6 2024-07-10 criteria provided, single submitter clinical testing

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