ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.1301G>A (p.Gly434Asp)

gnomAD frequency: 0.00001  dbSNP: rs759184281
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001294404 SCV001483282 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2023-11-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV004035607 SCV004928469 uncertain significance Inborn genetic diseases 2024-02-28 criteria provided, single submitter clinical testing The c.1301G>A (p.G434D) alteration is located in exon 10 (coding exon 9) of the COL12A1 gene. This alteration results from a G to A substitution at nucleotide position 1301, causing the glycine (G) at amino acid position 434 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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