ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.1517C>G (p.Ala506Gly)

gnomAD frequency: 0.00063  dbSNP: rs189762594
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000981737 SCV001129731 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-01-15 criteria provided, single submitter clinical testing
GeneDx RCV001565737 SCV001789138 uncertain significance not provided 2023-05-19 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; Observed with COL12A1 p.(T786M) in several individuals, suggesting these two variants may occur on the same allele (in cis)
Ambry Genetics RCV002548457 SCV003744393 uncertain significance Inborn genetic diseases 2021-10-22 criteria provided, single submitter clinical testing The c.1517C>G (p.A506G) alteration is located in exon 10 (coding exon 9) of the COL12A1 gene. This alteration results from a C to G substitution at nucleotide position 1517, causing the alanine (A) at amino acid position 506 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV001565737 SCV003831226 uncertain significance not provided 2021-04-07 criteria provided, single submitter clinical testing

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