ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.3445G>A (p.Asp1149Asn) (rs368967197)

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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, Partners HealthCare Personalized Medicine RCV000152516 SCV000201696 uncertain significance not specified 2019-02-27 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Asp1149Asn variant in TTN has been identified in 1 individual with DCM who also had an additional splice site variant in TTN (LMM data). It has been identified in 0.016% (4/24970) of African chromosomes by gnomAD (http://gnomad.broadinstitute.org). Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, while the clinical significance of this variant is uncertain, its frequency suggests that it is more likely to be benign. ACMG/AMP Criteria applied: BS1_Supporting.
GeneDx RCV000152516 SCV000725476 likely benign not specified 2017-11-30 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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