ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.60364G>A (p.Asp20122Asn)

gnomAD frequency: 0.00006  dbSNP: rs776191153
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000591368 SCV000709575 uncertain significance not provided 2017-06-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000591368 SCV001152839 uncertain significance not provided 2021-09-01 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798915 SCV002042570 uncertain significance Cardiomyopathy 2020-08-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004530724 SCV004115193 uncertain significance TTN-related disorder 2022-11-01 criteria provided, single submitter clinical testing The TTN c.60364G>A variant is predicted to result in the amino acid substitution p.Asp20122Asn. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0055% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-179456088-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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