ClinVar Miner

Submissions for variant NM_001001557.4(GDF6):c.728G>T (p.Gly243Val)

gnomAD frequency: 0.00002  dbSNP: rs772188117
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001327602 SCV001518686 uncertain significance Klippel-Feil syndrome 1, autosomal dominant; Isolated microphthalmia 4; Microphthalmia, isolated, with coloboma 6; Leber congenital amaurosis 17 2023-07-17 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1027057). This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 243 of the GDF6 protein (p.Gly243Val). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with GDF6-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Revvity Omics, Revvity RCV003132418 SCV003816770 uncertain significance not provided 2021-03-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV003246886 SCV003940324 uncertain significance Inborn genetic diseases 2023-04-11 criteria provided, single submitter clinical testing The c.728G>T (p.G243V) alteration is located in exon 2 (coding exon 2) of the GDF6 gene. This alteration results from a G to T substitution at nucleotide position 728, causing the glycine (G) at amino acid position 243 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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