ClinVar Miner

Submissions for variant NM_003611.3(OFD1):c.512C>A (p.Ser171Tyr)

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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 RCV003790087 SCV004577570 uncertain significance Familial aplasia of the vermis; Orofaciodigital syndrome I 2023-08-27 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with tyrosine, which is neutral and polar, at codon 171 of the OFD1 protein (p.Ser171Tyr). This variant is not present in population databases (gnomAD no frequency). 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 expected to disrupt OFD1 protein function. This variant has not been reported in the literature in individuals affected with OFD1-related conditions.
Fulgent Genetics, Fulgent Genetics RCV005040512 SCV005683356 uncertain significance Orofaciodigital syndrome I; Retinitis pigmentosa 23; Simpson-Golabi-Behmel syndrome type 2; Joubert syndrome 10 2024-02-13 criteria provided, single submitter clinical testing

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