ClinVar Miner

Submissions for variant NM_016219.5(MAN1B1):c.620+1del

dbSNP: rs1564278864
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002318612 SCV000849834 likely pathogenic Inborn genetic diseases 2017-05-31 criteria provided, single submitter clinical testing The c.620+1delG intronic variant, located in intron 4 of the MAN1B1 gene, results from a deletion of one nucleotide within intron 4 of the MAN1B1 gene. This nucleotide position is highly conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to abolish the native splice donor site; however, direct evidence is unavailable. Alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. As such, this alteration is classified as likely pathogenic.

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