ClinVar Miner

Submissions for variant NM_003611.3(OFD1):c.2332T>G (p.Ser778Ala)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003780211 SCV004603667 uncertain significance Familial aplasia of the vermis; Orofaciodigital syndrome I 2023-11-25 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 778 of the OFD1 protein (p.Ser778Ala). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with OFD1-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt OFD1 protein function with a negative predictive value of 80%. 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.
Ambry Genetics RCV004823204 SCV005462288 uncertain significance Primary ciliary dyskinesia 2024-12-04 criteria provided, single submitter clinical testing The c.2332T>G (p.S778A) alteration is located in exon 17 (coding exon 17) of the OFD1 gene. This alteration results from a T to G substitution at nucleotide position 2332, causing the serine (S) at amino acid position 778 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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