ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.1490C>T (p.Pro497Leu)

dbSNP: rs1281022554
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001095745 SCV001251588 uncertain significance Mucopolysaccharidosis, MPS-III-A 2020-01-21 criteria provided, single submitter clinical testing The SGSH c.1490C>T (p.Pro497Leu) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. The p.Pro497Leu variant is reported at a frequency of 0.000009 in the European (non-Finnish) population of the Genome Aggregation Database though this is based on one allele in a region of good sequence coverage so the variant is presumed to be rare. Based on the limited evidence, the p.Pro497Leu variant is classified as a variant of unknown significance for mucopolysaccharidosis, type III.
Genome-Nilou Lab RCV001095745 SCV002045115 uncertain significance Mucopolysaccharidosis, MPS-III-A 2021-11-07 criteria provided, single submitter clinical testing

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