ClinVar Miner

Submissions for variant NM_001001557.4(GDF6):c.457T>C (p.Ser153Pro)

dbSNP: rs1470026888
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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 RCV001897823 SCV002153554 uncertain significance Klippel-Feil syndrome 1, autosomal dominant; Isolated microphthalmia 4; Microphthalmia, isolated, with coloboma 6; Leber congenital amaurosis 17 2022-11-01 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on GDF6 protein function. ClinVar contains an entry for this variant (Variation ID: 1384796). This variant has not been reported in the literature in individuals affected with GDF6-related conditions. This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 153 of the GDF6 protein (p.Ser153Pro).

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