ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.5737G>A (p.Ala1913Thr)

gnomAD frequency: 0.00001  dbSNP: rs747451109
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000692963 SCV000820815 uncertain significance Hypertrophic cardiomyopathy 2022-10-25 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1913 of the MYH7 protein (p.Ala1913Thr). This variant is present in population databases (rs747451109, gnomAD 0.006%). This missense change has been observed in individual(s) with clinical features of MYH7-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 571738). 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 expected to disrupt MYH7 protein function. 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.
GeneDx RCV001567885 SCV001791657 uncertain significance not provided 2021-05-25 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002343470 SCV002649676 uncertain significance Cardiovascular phenotype 2021-04-07 criteria provided, single submitter clinical testing The p.A1913T variant (also known as c.5737G>A), located in coding exon 37 of the MYH7 gene, results from a G to A substitution at nucleotide position 5737. The alanine at codon 1913 is replaced by threonine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002485659 SCV002794484 uncertain significance Hypertrophic cardiomyopathy 1; Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; Congenital myopathy with fiber type disproportion; Dilated cardiomyopathy 1S; MYH7-related skeletal myopathy 2021-09-03 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003486919 SCV004239490 uncertain significance Cardiomyopathy 2023-01-11 criteria provided, single submitter clinical testing

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