Submissions for variant NM_001369268.1(ACAN):c.230G>A (p.Arg77His)

gnomAD frequency: 0.00147  dbSNP: rs199701329

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514420	SCV000611073	likely benign	not provided	2017-09-15	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000514420	SCV001042400	benign	not provided	2023-11-27	criteria provided, single submitter	clinical testing
Mendelics	RCV000989369	SCV001139666	likely benign	Osteochondritis dissecans	2019-05-28	criteria provided, single submitter	clinical testing
GeneDx	RCV000514420	SCV002009055	uncertain significance	not provided	2021-04-05	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics	RCV003278859	SCV003961733	uncertain significance	Inborn genetic diseases	2023-04-11	criteria provided, single submitter	clinical testing	The c.230G>A (p.R77H) alteration is located in exon 3 (coding exon 2) of the ACAN gene. This alteration results from a G to A substitution at nucleotide position 230, causing the arginine (R) at amino acid position 77 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000514420	SCV002035579	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001796749	SCV002037416	benign	not specified		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004551656	SCV004752409	likely benign	ACAN-related disorder	2019-04-02	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).