ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.53012C>T (p.Ala17671Val) (rs549478203)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000152326 SCV000201215 uncertain significance not specified 2017-11-06 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Ala15103Val v ariant in TTN has not been previously reported in individuals with cardiomyopath y, but has been identified in 5/23972 of African chromosomes by the Genome Aggre gation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs549478203). A lanine (Ala) at position 15103 is not conserved in mammals or evolutionarily dis tant species and at least 10 fish species carry a valine (Val) at this position, raising the possibility that a change at this position may be tolerated. Additi onal computational prediction tools suggest that this variant may not impact the protein, though this information is not predictive enough to rule out pathogeni city. In summary, while the clinical significance of the p.Ala15103Val variant i s uncertain, these data suggest that it is more likely to be benign. ACMG/AMP Cr iteria applied: BP4 (Richards 2015).
Ambry Genetics RCV000250139 SCV000318713 uncertain significance Cardiovascular phenotype 2013-05-30 criteria provided, single submitter clinical testing
Invitae RCV000541819 SCV000643332 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-12-12 criteria provided, single submitter clinical testing
GeneDx RCV000152326 SCV000719582 likely benign not specified 2017-05-16 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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