ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.5635G>A (p.Ala1879Thr)

gnomAD frequency: 0.00034  dbSNP: rs184585202
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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 RCV000801635 SCV000941419 benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-01-04 criteria provided, single submitter clinical testing
GeneDx RCV001766661 SCV002008451 uncertain significance not provided 2024-09-25 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002534680 SCV003622368 uncertain significance Inborn genetic diseases 2021-07-06 criteria provided, single submitter clinical testing The c.5635G>A (p.A1879T) alteration is located in exon 33 (coding exon 32) of the COL12A1 gene. This alteration results from a G to A substitution at nucleotide position 5635, causing the alanine (A) at amino acid position 1879 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV001766661 SCV003833297 uncertain significance not provided 2019-05-03 criteria provided, single submitter clinical testing

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