Submissions for variant NM_002180.3(IGHMBP2):c.2360C>T (p.Pro787Leu)

gnomAD frequency: 0.00053  dbSNP: rs141594765

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000514865	SCV000293047	likely benign	not provided	2021-04-06	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 25025039, 32376792)
Illumina Laboratory Services, Illumina	RCV000348006	SCV000373795	uncertain significance	Autosomal recessive distal spinal muscular atrophy 1	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.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514865	SCV000610077	uncertain significance	not provided	2017-03-28	criteria provided, single submitter	clinical testing
Invitae	RCV001082293	SCV000764349	likely benign	Autosomal recessive distal spinal muscular atrophy 1; Charcot-Marie-Tooth disease axonal type 2S	2024-01-28	criteria provided, single submitter	clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre	RCV001173331	SCV001336419	uncertain significance	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000514865	SCV002047795	likely benign	not provided	2021-06-17	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000514865	SCV002062995	likely benign	not provided	2021-10-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002450728	SCV002735748	uncertain significance	Inborn genetic diseases	2021-12-15	criteria provided, single submitter	clinical testing	The p.P787L variant (also known as c.2360C>T), located in coding exon 13 of the IGHMBP2 gene, results from a C to T substitution at nucleotide position 2360. The proline at codon 787 is replaced by leucine, an amino acid with similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity	RCV000514865	SCV003813310	uncertain significance	not provided	2020-02-05	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000514865	SCV004226198	uncertain significance	not provided	2023-04-11	criteria provided, single submitter	clinical testing