ClinVar Miner

Submissions for variant NM_003611.3(OFD1):c.3021A>T (p.Glu1007Asp)

gnomAD frequency: 0.00001  dbSNP: rs1235702491
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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 RCV001349914 SCV001544281 uncertain significance Familial aplasia of the vermis; Orofaciodigital syndrome I 2020-02-14 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: "Benign"; Align-GVGD: "Class C0". The aspartic acid 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. 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 sequence change replaces glutamic acid with aspartic acid at codon 1007 of the OFD1 protein (p.Glu1007Asp). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with OFD1-related conditions.
Fulgent Genetics, Fulgent Genetics RCV002493799 SCV002801497 uncertain significance Orofaciodigital syndrome I; Retinitis pigmentosa 23; Simpson-Golabi-Behmel syndrome type 2; Joubert syndrome 10 2022-04-12 criteria provided, single submitter clinical testing

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