ClinVar Miner

Submissions for variant NM_001001557.4(GDF6):c.224C>G (p.Pro75Arg)

gnomAD frequency: 0.00001  dbSNP: rs1378920942
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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 RCV001367996 SCV001564371 uncertain significance Klippel-Feil syndrome 1, autosomal dominant; Isolated microphthalmia 4; Microphthalmia, isolated, with coloboma 6; Leber congenital amaurosis 17 2020-10-19 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 tolerated, 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 GDF6-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with arginine at codon 75 of the GDF6 protein (p.Pro75Arg). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and arginine.

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