ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.3915_3916delinsAA (p.Leu1306Ile)

dbSNP: rs786204174
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000168204 SCV000218869 uncertain significance Hypertrophic cardiomyopathy 2014-11-18 criteria provided, single submitter clinical testing In summary, this is a novel sequence change that leads to a missense alteration that is not predicted to affect protein function or cause disease. However, the evidence is insufficient at this time to prove that conclusively. As a result, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this sequence change is likely to be tolerated, but these predictions have not been confirmed by published functional studies. This sequence change has not been published in the literature and is not present in population databases. This sequence change deletes a GC dinucleotide and inserts two  AA nucleotides in exon 28 of the MYH7 mRNA (c.3915_3916delGCinsAA), resulting in the replacement of leucine with isoleucine at codon 1306 of the MYH7 protein (p.Leu1306Ile). The  leucine residue is highly conserved and there is a small physicochemical difference between leucine and isoleucine.

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