ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.5660A>G (p.Glu1887Gly)

gnomAD frequency: 0.00002  dbSNP: rs375404554
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Total submissions: 2
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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 RCV000035975 SCV000059627 uncertain significance not specified 2014-01-17 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Ambry Genetics RCV004017303 SCV004849159 uncertain significance Cardiovascular phenotype 2019-01-09 criteria provided, single submitter clinical testing The c.5660A>G (p.E1887G) alteration is located in exon 39 (coding exon 37) of the MYH7 gene. This alteration results from a A to G substitution at nucleotide position 5660, causing the glutamic acid (E) at amino acid position 1887 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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