ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.4084G>A (p.Val1362Ile)

gnomAD frequency: 0.00002  dbSNP: rs768398107
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000823105 SCV000963949 uncertain significance Hypertrophic cardiomyopathy 14 2024-11-18 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 1362 of the MYH6 protein (p.Val1362Ile). This variant is present in population databases (rs768398107, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with MYH6-related conditions. ClinVar contains an entry for this variant (Variation ID: 664920). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt MYH6 protein function with a negative predictive value of 80%. 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.
Ambry Genetics RCV002319922 SCV002628946 uncertain significance Cardiovascular phenotype 2024-12-01 criteria provided, single submitter clinical testing The c.4084G>A (p.V1362I) alteration is located in exon 29 (coding exon 27) of the MYH6 gene. This alteration results from a G to A substitution at nucleotide position 4084, causing the valine (V) at amino acid position 1362 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002495182 SCV002793254 uncertain significance Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to 2021-11-18 criteria provided, single submitter clinical testing

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