ClinVar Miner

Submissions for variant NM_001001557.4(GDF6):c.322G>A (p.Ala108Thr)

gnomAD frequency: 0.00006  dbSNP: rs368498747
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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 RCV001070415 SCV001235642 benign Klippel-Feil syndrome 1, autosomal dominant; Isolated microphthalmia 4; Microphthalmia, isolated, with coloboma 6; Leber congenital amaurosis 17 2023-10-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV004030747 SCV004875909 uncertain significance Inborn genetic diseases 2023-11-14 criteria provided, single submitter clinical testing The c.322G>A (p.A108T) alteration is located in exon 1 (coding exon 1) of the GDF6 gene. This alteration results from a G to A substitution at nucleotide position 322, causing the alanine (A) at amino acid position 108 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV004693583 SCV005196039 uncertain significance not provided criteria provided, single submitter not provided

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