ClinVar Miner

Submissions for variant NM_001001557.4(GDF6):c.478_479delinsAT (p.Glu160Met)

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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 RCV005217265 SCV005855528 uncertain significance Klippel-Feil syndrome 1, autosomal dominant; Isolated microphthalmia 4; Microphthalmia, isolated, with coloboma 6; Leber congenital amaurosis 17 2025-01-07 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with methionine, which is neutral and non-polar, at codon 160 of the GDF6 protein (p.Glu160Met). This variant is present in population databases (no rsID available, gnomAD 0.0004%). This variant has not been reported in the literature in individuals affected with GDF6-related conditions. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.

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