ClinVar Miner

Submissions for variant NM_003611.3(OFD1):c.257G>A (p.Gly86Asp)

dbSNP: rs2046878445
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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 RCV001063711 SCV001228570 uncertain significance Familial aplasia of the vermis; Orofaciodigital syndrome I 2021-04-06 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 been observed in individual(s) with clinical features of oral-facial-digital syndrome (Invitae). ClinVar contains an entry for this variant (Variation ID: 857937). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with aspartic acid at codon 86 of the OFD1 protein (p.Gly86Asp). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and aspartic acid.

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