ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1661T>G (p.Leu554Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV005252437 SCV005905068 uncertain significance Hypertrophic cardiomyopathy 4 2024-01-11 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Predicted Consequence/Location: Missense variant In silico tool predictions suggest damaging effect of the variant on gene or gene product [REVEL: 0.72 (>=0.6, sensitivity 0.68 and specificity 0.92)]. Therefore, this variant is classified as VUS according to the recommendation of ACMG/AMP guideline.

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