ClinVar Miner

Submissions for variant NM_001001557.4(GDF6):c.725C>G (p.Ala242Gly)

gnomAD frequency: 0.00004  dbSNP: rs886043381
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000344156 SCV000339831 uncertain significance not provided 2016-03-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp 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, Breakthrough Genomics RCV000344156 SCV005196037 uncertain significance not provided criteria provided, single submitter not provided
GeneDx 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

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