Submissions for variant NM_213599.3(ANO5):c.720G>T (p.Leu240=)

gnomAD frequency: 0.00037  dbSNP: rs147121216

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000710077	SCV000336321	uncertain significance	not provided	2016-10-07	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000276909	SCV000369972	uncertain significance	Limb-girdle muscular dystrophy, recessive	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000329671	SCV000369973	uncertain significance	Miyoshi myopathy	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000710077	SCV000534150	likely benign	not provided	2019-07-22	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000710077	SCV000612367	likely benign	not provided	2017-09-05	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001085068	SCV000767106	likely benign	Gnathodiaphyseal dysplasia; Autosomal recessive limb-girdle muscular dystrophy type 2L	2025-01-30	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001105480	SCV001262448	uncertain significance	ANO5-Related Muscle Diseases	2018-01-13	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.