ClinVar Miner

Submissions for variant NM_003611.3(OFD1):c.2966A>T (p.Asp989Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004097101 SCV003554279 uncertain significance Primary ciliary dyskinesia 2021-03-02 criteria provided, single submitter clinical testing The c.2966A>T (p.D989V) alteration is located in exon 22 (coding exon 22) of the OFD1 gene. This alteration results from a A to T substitution at nucleotide position 2966, causing the aspartic acid (D) at amino acid position 989 to be replaced by a valine (V). The in silico prediction for the p.D989V alteration is inconclusive. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003134697 SCV003814255 uncertain significance not provided 2019-10-30 criteria provided, single submitter clinical testing

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