ClinVar Miner

Submissions for variant NM_001001557.4(GDF6):c.1229T>G (p.Met410Arg)

dbSNP: rs1812440547
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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 RCV001326826 SCV001517876 uncertain significance Klippel-Feil syndrome 1, autosomal dominant; Isolated microphthalmia 4; Microphthalmia, isolated, with coloboma 6; Leber congenital amaurosis 17 2020-08-06 criteria provided, single submitter clinical testing This sequence change replaces methionine with arginine at codon 410 of the GDF6 protein (p.Met410Arg). The methionine residue is highly conserved and there is a moderate physicochemical difference between methionine and arginine. 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 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. 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 GDF6-related conditions. This variant is not present in population databases (ExAC no frequency).

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