ClinVar Miner

Submissions for variant NM_001001557.4(GDF6):c.758A>T (p.Gln253Leu)

dbSNP: rs121909355
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001851750 SCV002184398 uncertain significance Klippel-Feil syndrome 1, autosomal dominant; Isolated microphthalmia 4; Microphthalmia, isolated, with coloboma 6; Leber congenital amaurosis 17 2021-08-18 criteria provided, single submitter clinical testing This sequence change replaces glutamine with leucine at codon 253 of the GDF6 protein (p.Gln253Leu). The glutamine residue is moderately conserved and there is a moderate physicochemical difference between glutamine and leucine. While this variant is present in population databases (rs121909355), the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This missense change has been observed in individual(s) with microphthalmia (PMID: 19129173). ClinVar contains an entry for this variant (Variation ID: 8375). 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.
OMIM RCV000008881 SCV000029091 pathogenic Isolated microphthalmia 4 2009-03-15 no assertion criteria provided literature only

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