ClinVar Miner

Submissions for variant NM_003611.3(OFD1):c.916A>G (p.Arg306Gly)

dbSNP: rs2047424420
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001069407 SCV001234571 uncertain significance Familial aplasia of the vermis; Orofaciodigital syndrome I 2019-04-27 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with OFD1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with glycine at codon 306 of the OFD1 protein (p.Arg306Gly). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and glycine.

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