ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.2T>G (p.Met1Arg)

dbSNP: rs1488660868
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001951435 SCV002239679 pathogenic Mucopolysaccharidosis, MPS-III-A 2022-10-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the SGSH protein in which other variant(s) (p.Thr79Pro) have been determined to be pathogenic (PMID: 9285796, 11182930; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 1460119). A different variant (c.1A>G) giving rise to the same protein effect has been determined to be pathogenic (PMID: 21204211, 21910976, 22976768). This suggests that this variant is also likely to be causative of disease. This variant is not present in population databases (gnomAD no frequency). This sequence change affects the initiator methionine of the SGSH mRNA. The next in-frame methionine is located at codon 88.

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