ClinVar Miner

Submissions for variant NM_003611.3(OFD1):c.355C>A (p.Pro119Thr)

gnomAD frequency: 0.00007  dbSNP: rs202103941
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002057049 SCV002494330 likely benign Familial aplasia of the vermis; Orofaciodigital syndrome I 2021-08-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002336553 SCV002618894 uncertain significance Primary ciliary dyskinesia; Inborn genetic diseases 2017-03-09 criteria provided, single submitter clinical testing The p.P119T variant (also known as c.355C>A), located in coding exon 4 of the OFD1 gene, results from a C to A substitution at nucleotide position 355. The proline at codon 119 is replaced by threonine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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