ClinVar Miner

Submissions for variant NM_001001557.4(GDF6):c.115T>C (p.Ser39Pro)

gnomAD frequency: 0.00004  dbSNP: rs749337343
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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 RCV001940313 SCV002190987 uncertain significance Klippel-Feil syndrome 1, autosomal dominant; Isolated microphthalmia 4; Microphthalmia, isolated, with coloboma 6; Leber congenital amaurosis 17 2022-08-22 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 39 of the GDF6 protein (p.Ser39Pro). 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. ClinVar contains an entry for this variant (Variation ID: 1417974). This variant has not been reported in the literature in individuals affected with GDF6-related conditions. This variant is present in population databases (rs749337343, gnomAD 0.03%).

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