ClinVar Miner

Submissions for variant NM_002547.3(OPHN1):c.702+4A>G

dbSNP: rs2147481894
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kids Neuroscience Centre, Sydney Children's Hospitals Network RCV001726495 SCV001571490 likely pathogenic X-linked intellectual disability-cerebellar hypoplasia syndrome criteria provided, single submitter clinical testing mRNA studies confirm the hemizygous OPHN1 c.702+4A>G variant induces abnormal splicing of OPHN1 transcripts in blood mRNA. OPHN1 exon-8 is a canonical exon included in all predominant OPHN1 isoforms expressed in brain. The absence of this variant from gnomAD is consistent with a rare X-linked recessive disorder. Exon 8 skipping induced by the OPHN1 c.702+4A>G variant abnormally removes 35 amino acids from the encoded Oligophrenin-1 protein. Hemizygous variants in OPHN1 are consistent with X-linked recessive mental retardation.

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