ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.42764G>A (p.Ser14255Asn)

gnomAD frequency: 0.00001  dbSNP: rs368433387
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000535470 SCV000643157 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-05-26 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001508114 SCV001714050 uncertain significance not provided 2020-09-10 criteria provided, single submitter clinical testing
GeneDx RCV001508114 SCV002552724 uncertain significance not provided 2022-06-24 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Missense variant in a gene in which most reported pathogenic variants are truncating/loss of function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 23975875)

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