ClinVar Miner

Submissions for variant NM_005908.4(MANBA):c.378+1G>A

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenomeConnect, ClinGen RCV000709926 SCV000840275 not provided Beta-D-mannosidosis no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Illumina Clinical Services Laboratory,Illumina RCV000709926 SCV000915068 uncertain significance Beta-D-mannosidosis 2018-12-03 criteria provided, single submitter clinical testing The MANBA c.378+1G>A variant occurs in a canonical splice site (donor) and is therefore predicted to disrupt or distort the normal gene product. A literature search was performed for the gene and cDNA change. No publications were found through this search. This variant is reported at a frequency of 0.000024 in the European (non-Finnish) population of the Genome Aggregation Database. Based on the potential impact of splice donor variants and the lack of clarifying evidence, the c.378+1G>A variant is classified as a variant of unknown significance but suspicious for pathogenicity for beta-mannosidosis. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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