ClinVar Miner

Submissions for variant NM_000262.3(NAGA):c.479C>G (p.Ser160Cys) (rs121434532)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000169668 SCV000221201 likely pathogenic Schindler disease, type 1 2013-11-26 criteria provided, single submitter clinical testing The Ser160Cys variant in NAGA has been previously identified in 1 compound heterozygous individual with Alpha-N-acetylgalactosaminidase (NAGA) deficiency and segregated with enzyme deficiency in a sibling (Keulemans 1996). Functional studies indicate this variant results in 4% residual NAGA activity possibly explaining the milder than typical phenotype, particularly in the clinically unaffected sibling with reduced enzyme activity (Keulemans 1996). In summary, this variant is likely pathogenic, though additional studies are required to fully establish its clinical significance.
OMIM RCV000019795 SCV000040093 pathogenic Schindler disease, type 3 1996-06-01 no assertion criteria provided literature only

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