NM_000335.5(SCN5A):c.1127G>A (p.Arg376His) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 12, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002498339.8
Allele description [Variation Report for NM_000335.5(SCN5A):c.1127G>A (p.Arg376His)]
NM_000335.5(SCN5A):c.1127G>A (p.Arg376His)
Condition(s)
- Name:
- Brugada syndrome 1 (BRGDA1)
- Synonyms:
- Right bundle branch block, ST segment elevation, and sudden death syndrome
- Identifiers:
- MONDO: MONDO:0011001; MedGen: C4551804; Orphanet: 130; OMIM: 601144
- Name:
- Long QT syndrome 3 (LQT3)
- Identifiers:
- MONDO: MONDO:0011377; MedGen: C1859062; Orphanet: 101016; Orphanet: 768; OMIM: 603830
- Name:
- Sick sinus syndrome 1
- Synonyms:
- SICK SINUS SYNDROME, CONGENITAL; SINUS BRADYCARDIA SYNDROME, FAMILIAL; SINUS NODE DISEASE, FAMILIAL, AUTOSOMAL RECESSIVE; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0024562; MedGen: C1837845; Orphanet: 166282; OMIM: 608567
- Name:
- Progressive familial heart block, type 1A (PFHB1A)
- Synonyms:
- HEART BLOCK, PROGRESSIVE FAMILIAL, TYPE I; Heart block progressive familial type 1; Cardiac conduction defect progressive; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007240; MedGen: C1879286; Orphanet: 871; OMIM: 113900
- Name:
- Ventricular fibrillation, paroxysmal familial, type 1
- Identifiers:
- MONDO: MONDO:0011376; MedGen: C2751898; Orphanet: 228140; OMIM: 603829
- Name:
- Dilated cardiomyopathy 1E (CMD1E)
- Synonyms:
- CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 2; CARDIOMYOPATHY, DILATED, WITH CONDUCTION DISORDER AND ARRHYTHMIA; SCN5A-Associated Dilated Cardiomyopathy
- Identifiers:
- MONDO: MONDO:0011003; MedGen: C1832680; Orphanet: 154; OMIM: 601154
Assertion and evidence details
Last Updated: Sep 29, 2024