ClinVar Miner

Submissions for variant NM_003611.3(OFD1):c.710A>G (p.Lys237Arg)

gnomAD frequency: 0.00002  dbSNP: rs1179498927
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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 RCV001970691 SCV002252088 uncertain significance Familial aplasia of the vermis; Orofaciodigital syndrome I 2020-12-14 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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. 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 lysine with arginine at codon 237 of the OFD1 protein (p.Lys237Arg). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and arginine.

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