ClinVar Miner

Submissions for variant NM_001001557.4(GDF6):c.1012T>C (p.Phe338Leu)

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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 RCV003066714 SCV003445560 uncertain significance Klippel-Feil syndrome 1, autosomal dominant; Isolated microphthalmia 4; Microphthalmia, isolated, with coloboma 6; Leber congenital amaurosis 17 2022-09-29 criteria provided, single submitter clinical testing 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) performed at Invitae indicates that this missense variant is not expected to disrupt GDF6 protein function. This variant has not been reported in the literature in individuals affected with GDF6-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.02%). This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 338 of the GDF6 protein (p.Phe338Leu).
Ambry Genetics RCV004070206 SCV004875905 uncertain significance Inborn genetic diseases 2024-02-28 criteria provided, single submitter clinical testing The c.1012T>C (p.F338L) alteration is located in exon 2 (coding exon 2) of the GDF6 gene. This alteration results from a T to C substitution at nucleotide position 1012, causing the phenylalanine (F) at amino acid position 338 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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