ClinVar Miner

Submissions for variant NM_001369268.1(ACAN):c.2261T>C (p.Leu754Pro)

gnomAD frequency: 0.00009  dbSNP: rs577419060
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000594506 SCV000701585 uncertain significance not provided 2016-10-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000594506 SCV001033801 likely benign not provided 2025-01-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV004024706 SCV004915741 uncertain significance Inborn genetic diseases 2022-12-20 criteria provided, single submitter clinical testing The c.2261T>C (p.L754P) alteration is located in exon 11 (coding exon 10) of the ACAN gene. This alteration results from a T to C substitution at nucleotide position 2261, causing the leucine (L) at amino acid position 754 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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