ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.4411C>T (p.Gln1471Ter)

dbSNP: rs397516216
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000035911 SCV000059562 uncertain significance not specified 2014-01-19 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Ambry Genetics RCV000618766 SCV000737384 uncertain significance Cardiovascular phenotype 2017-11-15 criteria provided, single submitter clinical testing The c.4411C>T (p.Q1471*) alteration, located in exon 32 (coding exon 30) of the MYH7 gene, consists of a C to T substitution at nucleotide position 4411. This changes the amino acid from a glutamine (Q) to a stop codon at amino acid position 1471. Premature stop codons are typically deleterious in nature (Richards, 2015). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV001753444 SCV002005596 uncertain significance not provided 2019-06-19 criteria provided, single submitter clinical testing Identified in a single individual with DCM, however, additional clinical and segregation information was not provided (Pugh et al., 2014; Walsh et al., 2017); Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 24503780, 27532257)
Invitae RCV003105778 SCV003783830 uncertain significance Hypertrophic cardiomyopathy 2023-09-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1471*) in the MYH7 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in MYH7 cause disease. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with dilated cardiomyopathy (PMID: 24503780). ClinVar contains an entry for this variant (Variation ID: 43017). 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.
Color Diagnostics, LLC DBA Color Health RCV003531919 SCV004359535 uncertain significance Cardiomyopathy 2023-03-29 criteria provided, single submitter clinical testing This variant changes 1 nucleotide in exon 32 of the MYH7 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been reported in an individual affected with dilated cardiomyopathy (PMID: 24503780, 27532257). Clinical relevance of loss-of-function MYH7 truncation variants in autosomal dominant cardiovascular disorders is not clearly established. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
All of Us Research Program, National Institutes of Health RCV003531919 SCV004830206 uncertain significance Cardiomyopathy 2023-06-08 criteria provided, single submitter clinical testing This variant changes 1 nucleotide in exon 32 of the MYH7 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been reported in an individual affected with dilated cardiomyopathy (PMID: 24503780, 27532257). Clinical relevance of loss-of-function MYH7 truncation variants in autosomal dominant cardiovascular disorders is not clearly established. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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