ClinVar Miner

Submissions for variant NM_001001557.4(GDF6):c.536C>A (p.Pro179Gln)

dbSNP: rs1444302456
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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 RCV001298384 SCV001487439 benign Klippel-Feil syndrome 1, autosomal dominant; Isolated microphthalmia 4; Microphthalmia, isolated, with coloboma 6; Leber congenital amaurosis 17 2022-10-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV004629541 SCV005123802 uncertain significance Inborn genetic diseases 2024-03-18 criteria provided, single submitter clinical testing The c.536C>A (p.P179Q) alteration is located in exon 2 (coding exon 2) of the GDF6 gene. This alteration results from a C to A substitution at nucleotide position 536, causing the proline (P) at amino acid position 179 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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