ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.43244G>A (p.Ser14415Asn) (rs370342831)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000040236 SCV000063927 uncertain significance not specified 2011-12-19 criteria provided, single submitter clinical testing The Ser11847Asn variant (TTN) has not been previously reported but has been iden tified by our laboratory in 1 individual with HCM (the role of TTN in HCM is cur rently not understood). Serine (Ser) at position 11847 is moderately conserved a cross evolutionarily distant species and this information is insufficient to pre dict if a change would impact the protein. Computational predictions on the impa ct to the protein are mixed (AlignGVGD = inconclusive, SIFT = pathogenic), thoug h the accuracy of these tools is unknown. Additional information is needed to f ully assess the clinical significance of the Ser11847Asn variant.
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769021 SCV000900394 uncertain significance Cardiomyopathy 2016-06-16 criteria provided, single submitter clinical testing
GeneDx RCV000838588 SCV000980460 likely benign not provided 2018-06-07 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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