Submissions for variant NM_001101426.4(CRPPA):c.1059G>A (p.Lys353=)

gnomAD frequency: 0.00151  dbSNP: rs181099904

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000253188	SCV000232599	likely benign	not specified	2016-06-23	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000253188	SCV000306589	likely benign	not specified		criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000544710	SCV000652576	benign	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; Autosomal recessive limb-girdle muscular dystrophy type 2U	2025-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001092556	SCV000725074	likely benign	not provided	2021-05-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001092556	SCV001249112	likely benign	not provided	2025-02-01	criteria provided, single submitter	clinical testing	CRPPA: BP4, BP7
Illumina Laboratory Services, Illumina	RCV001162651	SCV001324612	uncertain significance	Congenital Muscular Dystrophy, alpha-dystroglycan related	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.
Athena Diagnostics	RCV000253188	SCV001476626	benign	not specified	2020-03-17	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001092556	SCV001930235	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001092556	SCV001974847	likely benign	not provided		no assertion criteria provided	clinical testing