ClinVar Miner

Submissions for variant NM_001001557.4(GDF6):c.959C>G (p.Pro320Arg)

gnomAD frequency: 0.00002  dbSNP: rs888138096
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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 RCV001901583 SCV002173206 benign Klippel-Feil syndrome 1, autosomal dominant; Isolated microphthalmia 4; Microphthalmia, isolated, with coloboma 6; Leber congenital amaurosis 17 2024-11-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV004631812 SCV005123799 uncertain significance Inborn genetic diseases 2024-03-25 criteria provided, single submitter clinical testing The c.959C>G (p.P320R) 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 959, causing the proline (P) at amino acid position 320 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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