ClinVar Miner

Submissions for variant NM_000381.4(MID1):c.107G>A (p.Arg36His)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV001095776 SCV001251621 uncertain significance Opitz GBBB syndrome, type I 2020-01-14 criteria provided, single submitter clinical testing The MID1 c.107G>A (p.Arg36His) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. The variant is reported at a frequency of 0.000106 in the South Asian population of the Genome Aggregation Database, though this is based on two alleles in a region of good sequencing coverage, so the variant is presumed to be rare. One of these alleles in the Genome Aggregation Database represents a hemizygote. Based on the limited evidence, the p.Arg36His variant is classified as a variant of unknown significance for X-linked Opitz G/BBB syndrome.

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