ClinVar Miner

Submissions for variant NM_005677.4(COLQ):c.167C>T (p.Pro56Leu)

gnomAD frequency: 0.00051  dbSNP: rs768517440
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000644602 SCV000766302 likely benign Congenital myasthenic syndrome 5 2024-12-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002528910 SCV003750275 uncertain significance Inborn genetic diseases 2021-09-09 criteria provided, single submitter clinical testing The c.167C>T (p.P56L) alteration is located in exon 2 (coding exon 2) of the COLQ gene. This alteration results from a C to T substitution at nucleotide position 167, causing the proline (P) at amino acid position 56 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV000644602 SCV003828308 uncertain significance Congenital myasthenic syndrome 5 2019-05-28 criteria provided, single submitter clinical testing

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