Submissions for variant NM_000070.3(CAPN3):c.525C>T (p.Asp175=)

gnomAD frequency: 0.00064  dbSNP: rs144383442

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000724809	SCV000230020	uncertain significance	not provided	2017-07-03	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000374364	SCV000390996	uncertain significance	Autosomal recessive limb-girdle muscular dystrophy type 2A	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Illumina Laboratory Services, Illumina	RCV000282391	SCV000390997	uncertain significance	Limb-girdle muscular dystrophy, recessive	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000724809	SCV000524038	likely benign	not provided	2019-10-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000374364	SCV000766739	likely benign	Autosomal recessive limb-girdle muscular dystrophy type 2A	2024-01-29	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000178035	SCV001879807	benign	not specified	2020-12-22	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000724809	SCV005050284	likely benign	not provided	2024-05-01	criteria provided, single submitter	clinical testing	CAPN3: BP4, BP7
Natera, Inc.	RCV000374364	SCV001456718	likely benign	Autosomal recessive limb-girdle muscular dystrophy type 2A	2020-04-17	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004732747	SCV005365000	likely benign	CAPN3-related disorder	2024-09-27	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).