ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.5207A>G (p.Asp1736Gly)

dbSNP: rs762021815
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000809094 SCV000949234 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2023-04-26 criteria provided, single submitter clinical testing
GeneDx RCV001564747 SCV001787956 uncertain significance not provided 2019-04-26 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Centogene AG - the Rare Disease Company RCV001809824 SCV002059540 uncertain significance Ullrich congenital muscular dystrophy 2 2019-04-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV003166281 SCV003891046 uncertain significance Inborn genetic diseases 2023-01-26 criteria provided, single submitter clinical testing The c.5207A>G (p.D1736G) alteration is located in exon 29 (coding exon 28) of the COL12A1 gene. This alteration results from a A to G substitution at nucleotide position 5207, causing the aspartic acid (D) at amino acid position 1736 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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