ClinVar Miner

Submissions for variant NM_000381.4(MID1):c.1142-1G>T

dbSNP: rs1929600096
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001270717 SCV001451462 likely pathogenic X-linked Opitz G/BBB syndrome 2019-03-01 criteria provided, single submitter clinical testing The MID1 c.1142-1G>T variant occurs in a canonical splice site (acceptor) and is therefore predicted to disrupt the normal gene product. A literature search was performed for the gene and cDNA change. No publications were found based on this search. This variant is not found in the Genome Aggregation Database in a region of good sequence coverage so the variant is presumed to be rare. Based on the potential effect of splice site variants and its rarity, the c.1142-1G>T variant is classified as likely pathogenic for X-linked Opitz G/BBB syndrome.

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