Submissions for variant NM_000100.4(CSTB):c.121G>A (p.Val41Met)

gnomAD frequency: 0.00101  dbSNP: rs143153487

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000187274	SCV000227015	likely benign	not specified	2018-06-15	criteria provided, single submitter	clinical testing
GeneDx	RCV000175522	SCV000240856	likely benign	not provided	2021-04-28	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000175522	SCV000280887	uncertain significance	not provided	2015-12-23	criteria provided, single submitter	clinical testing	Converted during submission to Uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001084812	SCV000547857	likely benign	Progressive myoclonic epilepsy	2024-01-29	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000624931	SCV000743130	benign	Unverricht-Lundborg syndrome	2017-07-28	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000624931	SCV000744131	likely benign	Unverricht-Lundborg syndrome	2016-09-29	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000187274	SCV001143870	benign	not specified	2020-12-15	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000624931	SCV001303485	uncertain significance	Unverricht-Lundborg syndrome	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Ambry Genetics	RCV002362892	SCV002657230	likely benign	Inborn genetic diseases	2018-11-23	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences	RCV003947486	SCV004772835	likely benign	CSTB-related disorder	2022-05-25	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).