ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.17869C>G (p.Gln5957Glu)

gnomAD frequency: 0.00005  dbSNP: rs201672969
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000172402 SCV000055065 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV000471452 SCV000542384 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-05-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004734772 SCV005357389 uncertain significance TTN-related disorder 2024-07-09 no assertion criteria provided clinical testing The TTN c.17869C>G variant is predicted to result in the amino acid substitution p.Gln5957Glu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0083% of alleles in individuals of African 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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