ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.4450C>A (p.Leu1484Ile)

gnomAD frequency: 0.00001  dbSNP: rs1555336651
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000618124 SCV000736648 uncertain significance Cardiovascular phenotype 2023-08-23 criteria provided, single submitter clinical testing The p.L1484I variant (also known as c.4450C>A), located in coding exon 30 of the MYH7 gene, results from a C to A substitution at nucleotide position 4450. The leucine at codon 1484 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV000805383 SCV000945337 uncertain significance Hypertrophic cardiomyopathy 2023-04-26 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. 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on MYH7 protein function. ClinVar contains an entry for this variant (Variation ID: 518934). This variant has not been reported in the literature in individuals affected with MYH7-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 1484 of the MYH7 protein (p.Leu1484Ile).

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