ClinVar Miner

Submissions for variant NM_003611.3(OFD1):c.935+4A>G

gnomAD frequency: 0.00001  dbSNP: rs1243725011
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001333141 SCV001525637 uncertain significance Orofaciodigital syndrome I 2018-09-14 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV001587352 SCV001815086 uncertain significance not provided 2021-05-26 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001871846 SCV002116646 uncertain significance Familial aplasia of the vermis; Orofaciodigital syndrome I 2022-04-28 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 9 of the OFD1 gene. It does not directly change the encoded amino acid sequence of the OFD1 protein. It affects a nucleotide within the consensus splice site. This variant has not been reported in the literature in individuals affected with OFD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1031341). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Fulgent Genetics, Fulgent Genetics RCV002486332 SCV002789070 uncertain significance Orofaciodigital syndrome I; Retinitis pigmentosa 23; Simpson-Golabi-Behmel syndrome type 2; Joubert syndrome 10 2022-05-19 criteria provided, single submitter clinical testing

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