ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.5157G>A (p.Gln1719=)

gnomAD frequency: 0.00001  dbSNP: rs769875223
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000530756 SCV000623736 uncertain significance Hypertrophic cardiomyopathy 2021-12-04 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 454387). This variant has been observed in individual(s) with hypertrophic cardiomyopathy (Invitae). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change affects codon 1719 of the MYH7 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the MYH7 protein. This variant also falls at the last nucleotide of exon 35, which is part of the consensus splice site for this exon.
Fulgent Genetics, Fulgent Genetics RCV002490932 SCV002775539 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 2021-09-13 criteria provided, single submitter clinical testing

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