ClinVar Miner

Submissions for variant NM_007018.6(CNTRL):c.4601A>C (p.Gln1534Pro)

gnomAD frequency: 0.00023  dbSNP: rs144086611
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000943864 SCV001089820 benign not provided 2018-08-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV004029747 SCV003995620 uncertain significance not specified 2023-03-16 criteria provided, single submitter clinical testing The c.4601A>C (p.Q1534P) alteration is located in exon 27 (coding exon 27) of the CNTRL gene. This alteration results from a A to C substitution at nucleotide position 4601, causing the glutamine (Q) at amino acid position 1534 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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