ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.5190G>T (p.Met1730Ile)

dbSNP: rs1566522989
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations RCV000754866 SCV000882680 uncertain significance Atrial fibrillation; Tachycardia; Atrial flutter; Abnormal morphology of left ventricular trabeculae 2018-12-03 criteria provided, single submitter research The variant c.5190G>T (p.M1730I) was detected in a 64 years old female patient with heart rhythm disturbances and a layer of non-compact myocardium not reaching diagnostic criteria for left ventricular noncompaction. No DNA samples were available for family screening. Online prediction tools classify the p.M1730I variant as disease causing. However, with no functional or family studies available, p.M1730I variant can only be classified as variant with unknown clinical significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV005092168 SCV005807450 uncertain significance Hypertrophic cardiomyopathy 2024-02-08 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 1730 of the MYH7 protein (p.Met1730Ile). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MYH7-related conditions. ClinVar contains an entry for this variant (Variation ID: 617741). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt MYH7 protein function with a negative predictive value of 95%. 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.

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