ClinVar Miner

Submissions for variant NM_003611.3(OFD1):c.494C>T (p.Ser165Leu)

gnomAD frequency: 0.00004  dbSNP: rs756793358
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001517035 SCV001725428 benign Familial aplasia of the vermis; Orofaciodigital syndrome I 2023-07-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002334567 SCV002641708 uncertain significance Primary ciliary dyskinesia; Inborn genetic diseases 2019-04-15 criteria provided, single submitter clinical testing The p.S165L variant (also known as c.494C>T), located in coding exon 6 of the OFD1 gene, results from a C to T substitution at nucleotide position 494. The serine at codon 165 is replaced by leucine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002501798 SCV002802532 likely benign Orofaciodigital syndrome I; Retinitis pigmentosa 23; Simpson-Golabi-Behmel syndrome type 2; Joubert syndrome 10 2022-03-22 criteria provided, single submitter clinical testing

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