ClinVar Miner

Submissions for variant NM_003611.3(OFD1):c.2450C>T (p.Ala817Val)

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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 RCV003781760 SCV004574276 uncertain significance Familial aplasia of the vermis; Orofaciodigital syndrome I 2023-06-11 criteria provided, single submitter clinical testing 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. 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. This variant has not been reported in the literature in individuals affected with OFD1-related conditions. This variant is present in population databases (rs142703521, gnomAD 0.001%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 817 of the OFD1 protein (p.Ala817Val).
Fulgent Genetics, Fulgent Genetics RCV005040510 SCV005678834 uncertain significance Orofaciodigital syndrome I; Retinitis pigmentosa 23; Simpson-Golabi-Behmel syndrome type 2; Joubert syndrome 10 2024-05-18 criteria provided, single submitter clinical testing

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