ClinVar Miner

Submissions for variant NM_001368882.1(COL13A1):c.648del (p.Gly217fs)

dbSNP: rs763281993
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000331517 SCV000330626 pathogenic not provided 2016-12-28 criteria provided, single submitter clinical testing The c.621delA variant in the COL13A1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.621delA variant causes a frameshift starting with codon Glycine 208, changes this amino acid to a Glutamic Acid residue, and creates a premature Stop codon at position 15 of the new reading frame, denoted p.Gly208GlufsX15. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. We interpret c.621delA as a pathogenic variant.
Revvity Omics, Revvity RCV003492024 SCV004235040 pathogenic Congenital myasthenic syndrome 19 2023-03-15 criteria provided, single submitter clinical testing

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