ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.3326C>T (p.Thr1109Ile)

gnomAD frequency: 0.00013  dbSNP: rs397516016
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000172004 SCV000054761 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000035579 SCV000059229 uncertain significance not specified 2020-04-22 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
GeneDx RCV000172004 SCV000513763 uncertain significance not provided 2024-11-19 criteria provided, single submitter clinical testing Identified in patients with HCM and seen with other cardiogenetic variant(s) in at least one individual (PMID: 21839045, 25351510, 37652022); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 23861362, 27153395, 25351510, 21839045, 37652022)
Labcorp Genetics (formerly Invitae), Labcorp RCV001081179 SCV000749850 likely benign Hypertrophic cardiomyopathy 2025-01-20 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000777955 SCV000914054 likely benign Cardiomyopathy 2018-07-22 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001105977 SCV001263001 uncertain significance Hypertrophic cardiomyopathy 4 2017-04-28 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001105978 SCV001263002 benign Left ventricular noncompaction 10 2017-04-28 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Ambry Genetics RCV003298048 SCV003989416 likely benign Cardiovascular phenotype 2023-03-24 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.

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