Submissions for variant NM_004006.3(DMD):c.3816G>C (p.Leu1272Phe)

gnomAD frequency: 0.00014  dbSNP: rs760733415

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000724165	SCV000228631	uncertain significance	not provided	2015-10-29	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000306607	SCV000482259	uncertain significance	Dilated cardiomyopathy 3B	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.
GeneDx	RCV000724165	SCV000617898	benign	not provided	2020-09-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001080626	SCV001009931	benign	Duchenne muscular dystrophy	2025-01-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002362899	SCV002624205	likely benign	Cardiovascular phenotype	2020-01-02	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.
Revvity Omics, Revvity	RCV000724165	SCV003830043	uncertain significance	not provided	2019-09-14	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV004998375	SCV005622221	benign	not specified	2023-12-15	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000724165	SCV001931702	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000724165	SCV001974417	likely benign	not provided		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001826896	SCV002085400	likely benign	Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency	2020-07-03	no assertion criteria provided	clinical testing