ClinVar Miner

Submissions for variant NM_002547.3(OPHN1):c.116_127del (p.Val39_Asp42del)

dbSNP: rs2078892867
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Human Neuroscience, La Sapienza University of Rome RCV001290259 SCV001478076 likely pathogenic X-linked intellectual disability-cerebellar hypoplasia syndrome criteria provided, single submitter clinical testing The variant was identified in a single family and classified as "likely pathogenic" according to the ACMG criteria (PM2, PM4, PP2, PP3 and PP4). Data not yet published.
Labcorp Genetics (formerly Invitae), Labcorp RCV003660887 SCV004375154 uncertain significance not provided 2023-08-04 criteria provided, single submitter clinical testing This variant, c.116_127del, results in the deletion of 4 amino acid(s) of the OPHN1 protein (p.Val39_Asp42del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 995998). This variant has been observed in individual(s) with OPHN1-related conditions (PMID: 33638601).

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