Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000344156 | SCV000339831 | uncertain significance | not provided | 2016-03-01 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001239678 | SCV001412570 | uncertain significance | Klippel-Feil syndrome 1, autosomal dominant; Isolated microphthalmia 4; Microphthalmia, isolated, with coloboma 6; Leber congenital amaurosis 17 | 2024-01-20 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 242 of the GDF6 protein (p.Ala242Gly). This variant is present in population databases (no rsID available, gnomAD 0.2%). This variant has not been reported in the literature in individuals affected with GDF6-related conditions. ClinVar contains an entry for this variant (Variation ID: 286405). 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 tolerated. 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. |
Ambry Genetics | RCV004021200 | SCV004875915 | uncertain significance | Inborn genetic diseases | 2024-02-06 | criteria provided, single submitter | clinical testing | The c.725C>G (p.A242G) alteration is located in exon 2 (coding exon 2) of the GDF6 gene. This alteration results from a C to G substitution at nucleotide position 725, causing the alanine (A) at amino acid position 242 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Breakthrough Genomics, |
RCV000344156 | SCV005196037 | uncertain significance | not provided | criteria provided, single submitter | not provided | ||
Gene |
RCV000344156 | SCV005332725 | uncertain significance | not provided | 2024-03-14 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |