ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.5260G>T (p.Glu1754Ter)

dbSNP: rs372270600
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001341985 SCV001535884 uncertain significance Hypertrophic cardiomyopathy 14 2020-10-21 criteria provided, single submitter clinical testing 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. This variant has been observed in individual(s) with hypoplastic left heart syndrome (PMID: 27789736). This variant is present in population databases (rs372270600, ExAC 0.01%). This sequence change creates a premature translational stop signal (p.Glu1754*) in the MYH6 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in MYH6 cause disease.
PreventionGenetics, part of Exact Sciences RCV004734128 SCV005363932 uncertain significance MYH6-related disorder 2024-09-11 no assertion criteria provided clinical testing The MYH6 c.5260G>T variant is predicted to result in premature protein termination (p.Glu1754*). This variant was reported in an individual with hypoplastic left heart syndrome (Tomita-Mitchell et al 2016. PubMed ID: 27789736). This variant is reported in 0.012% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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