Submissions for variant NM_000432.4(MYL2):c.3+2T>C

dbSNP: rs111373423

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Mendelics	RCV000988909	SCV001138822	pathogenic	Hypertrophic cardiomyopathy 10	2019-05-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000988909	SCV002993802	uncertain significance	Hypertrophic cardiomyopathy 10	2024-11-13	criteria provided, single submitter	clinical testing	This sequence change affects a donor splice site in intron 1 of the MYL2 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), however the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in MYL2 cause disease. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MYL2-related conditions. ClinVar contains an entry for this variant (Variation ID: 802893). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	RCV004545886	SCV004183375	likely pathogenic	MYL2-related disorder	2020-12-20	criteria provided, single submitter	clinical testing	ACMG classification criteria: PVS1, PM2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	RCV000988909	SCV004805981	pathogenic	Hypertrophic cardiomyopathy 10	2024-03-25	criteria provided, single submitter	clinical testing