ClinVar Miner

Submissions for variant NM_001001557.4(GDF6):c.100T>C (p.Ser34Pro)

dbSNP: rs2130238372
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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 RCV001878382 SCV002121632 uncertain significance Klippel-Feil syndrome 1, autosomal dominant; Isolated microphthalmia 4; Microphthalmia, isolated, with coloboma 6; Leber congenital amaurosis 17 2021-04-05 criteria provided, single submitter clinical testing This sequence change replaces serine with proline at codon 34 of the GDF6 protein (p.Ser34Pro). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and proline. 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).

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