ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.1598T>A (p.Ile533Asn)

dbSNP: rs397516114
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000618244 SCV000735964 uncertain significance Cardiovascular phenotype 2023-03-02 criteria provided, single submitter clinical testing The p.I533N variant (also known as c.1598T>A), located in coding exon 14 of the MYH7 gene, results from a T to A substitution at nucleotide position 1598. The isoleucine at codon 533 is replaced by asparagine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000035733 SCV000059384 uncertain significance not specified 2014-01-02 no assertion criteria provided clinical testing proposed classification - variant undergoing re-assessment, contact laboratory

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