ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.729_730delinsTT (p.Glu243_Pro244delinsAspSer)

dbSNP: rs2112484265
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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 RCV001915908 SCV002181763 uncertain significance Mucopolysaccharidosis type 6 2021-08-19 criteria provided, single submitter clinical testing This variant, c.729_730delinsTT, is a complex sequence change that results in the deletion of 2 and insertion of 2 amino acid(s) in the ARSB protein (p.Glu243_Pro244delinsAspSer). The frequency data for this variant in the population databases is not available, as this variant may be reported as separate entries in the ExAC database. This variant has been observed in individual(s) with clinical features of mucopolysaccharidosis type VI (Invitae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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