ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.2168G>A (p.Arg723His) (rs397516135)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000035773 SCV000059424 uncertain significance not specified 2014-04-04 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Invitae RCV000628894 SCV000749802 uncertain significance Hypertrophic cardiomyopathy 2019-06-28 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 723 of the MYH7 protein (p.Arg723His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with Brugada syndrome (PMID: 25935763). ClinVar contains an entry for this variant (Variation ID: 42886). Different missense substitutions at this codon (p.Arg723Gly and p.Arg723Cys) has been determined to be pathogenic (PMID: 11113006, 17097032, 19651039, 20819418, 23318932, 1430197, 9829907, 25935763). This suggests that the arginine residue is critical for MYH7 protein function and that other missense substitutions at this position may also be pathogenic. 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV001092198 SCV001248601 pathogenic not provided 2016-09-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001110427 SCV001267864 uncertain significance Dilated cardiomyopathy 1S 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV001110428 SCV001267865 uncertain significance Myopathy, distal, 1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV001110429 SCV001267866 uncertain significance Myosin storage myopathy 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Evolutionary and Medical Genetics Laboratory, Centre for Cellular and Molecular Biology RCV000148962 SCV000154211 pathogenic Familial cardiomyopathy no assertion criteria provided not provided Converted during submission to Pathogenic.

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