ClinVar Miner

Submissions for variant NM_003500.4(ACOX2):c.632C>T (p.Ser211Leu)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004213574 SCV003724126 uncertain significance not specified 2022-06-21 criteria provided, single submitter clinical testing The c.632C>T (p.S211L) alteration is located in exon 6 (coding exon 5) of the ACOX2 gene. This alteration results from a C to T substitution at nucleotide position 632, causing the serine (S) at amino acid position 211 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV005099049 SCV005762682 likely benign not provided 2024-06-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003963778 SCV004783266 likely benign ACOX2-related disorder 2022-02-21 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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