ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.14662C>G (p.Pro4888Ala)

gnomAD frequency: 0.00005  dbSNP: rs376799249
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000185323 SCV000238203 likely benign not specified 2018-02-28 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000231783 SCV000286448 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-12-06 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170873 SCV001333495 likely benign Cardiomyopathy 2022-11-10 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003137753 SCV003826556 uncertain significance not provided 2021-12-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004734826 SCV005352868 uncertain significance TTN-related disorder 2024-04-02 no assertion criteria provided clinical testing The TTN c.14662C>G variant is predicted to result in the amino acid substitution p.Pro4888Ala. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.011% of alleles in individuals of European (Non-Finnish) descent in gnomAD. 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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