ClinVar Miner

Submissions for variant NM_001001557.4(GDF6):c.365A>C (p.Lys122Thr)

dbSNP: rs2130237421
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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 RCV001891122 SCV002164608 uncertain significance Klippel-Feil syndrome 1, autosomal dominant; Isolated microphthalmia 4; Microphthalmia, isolated, with coloboma 6; Leber congenital amaurosis 17 2021-07-15 criteria provided, single submitter clinical testing This sequence change replaces lysine with threonine at codon 122 of the GDF6 protein (p.Lys122Thr). The lysine residue is moderately conserved and there is a moderate physicochemical difference between lysine and threonine. 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with GDF6-related conditions. This variant is not present in population databases (ExAC no frequency).

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