ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.3360_3371dup (p.Leu1122_Glu1125dup)

dbSNP: rs1555337159
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000538070 SCV000623696 uncertain significance Hypertrophic cardiomyopathy 2020-12-19 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has been observed in individual(s) with clinical features of MYH7-related conditions (Invitae). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 454365). This variant is not present in population databases (ExAC no frequency). This variant, c.3360_3371dup, results in the insertion of 4 amino acid(s) to the MYH7 protein (p.Leu1122_Glu1125dup), but otherwise preserves the integrity of the reading frame.
Eurofins Ntd Llc (ga) RCV000597706 SCV000701778 uncertain significance not provided 2016-09-29 criteria provided, single submitter clinical testing

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