ClinVar Miner

Submissions for variant NM_002547.3(OPHN1):c.1361G>A (p.Arg454Lys)

dbSNP: rs1602169116
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV000787965 SCV000926988 likely pathogenic X-linked intellectual disability-cerebellar hypoplasia syndrome 2018-12-05 criteria provided, single submitter clinical testing A hemizygous c.1361G>A (p.R454K) likely pathogenic variant in the OPHN1 gene was detected by exome sequencing and confirmed by Sanger sequencing. This variant alters the last nucleotide of exon 16. While not validated for clinical use, in silico tools predict that the c.1361G>A change affects the mRNA splicing.

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