ClinVar Miner

Submissions for variant NM_003611.3(OFD1):c.2387+1G>A

dbSNP: rs2047914412
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genomics Laboratory, Stanford Medicine RCV001253756 SCV001427032 likely pathogenic Joubert syndrome 10 2019-05-10 no assertion criteria provided clinical testing The c.2387+1G>A variant in the OFD1 gene has not been previously reported in association with disease, and is absent from large population databases, including the Genome Aggregation Database (http://gnomad.broadinstitute.org/). This variant alters the canonical donor splice site in intron 17, which is predicted to result in abnormal gene splicing. A different nucleotide change (reported as c.2388+1G>C) disrupting the same canonical splice donor site has been previously reported as hemizygous in an affected male infant with features consistent with oral-facial-digital syndrome (Tsurusaki et al., 2013). These data were assessed using the ACMG/AMP variant interpretation guidelines. In summary, there is sufficient evidence to classify the c.2387+1G>A variant as likely pathogenic for OFD1-associated syndromes in an X-linked recessive manner based on the information above. [ACMG evidence codes used: PM2; PVS1_Strong]

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