Submissions for variant NM_000257.4(MYH7):c.797-17T>C

gnomAD frequency: 0.00023  dbSNP: rs532401716

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000168844	SCV000303255	likely benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV001530040	SCV001753478	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002054005	SCV002404160	benign	Hypertrophic cardiomyopathy	2025-01-08	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000168844	SCV005887865	benign	not specified	2025-01-09	criteria provided, single submitter	clinical testing	Variant summary: MYH7 c.797-17T>C alters a nucleotide located at a position not widely known to affect splicing. Consensus agreement among computation tools predict no significant impact on normal splicing (TraP). However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.00085 in 250654 control chromosomes, predominantly at a frequency of 0.0065 within the South Asian subpopulation in the gnomAD database, including 1 homozygote. The observed variant frequency within South Asian control individuals in the gnomAD database is approximately 5 - fold of the estimated maximal expected allele frequency for a pathogenic variant in MYH7 causing Cardiomyopathy phenotype (0.0013). To our knowledge, no occurrence of c.797-17T>C in individuals affected with Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 188601). Based on the evidence outlined above, the variant was classified as benign.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001530040	SCV001744569	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001530040	SCV001930650	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001530040	SCV001954715	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001530040	SCV001964467	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001530040	SCV002035358	likely benign	not provided		no assertion criteria provided	clinical testing