ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.41104T>C (p.Ser13702Pro)

gnomAD frequency: 0.00001  dbSNP: rs72650078
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002251336 SCV000237149 uncertain significance not provided 2022-05-20 criteria provided, single submitter clinical testing Observed in an individual with DCM who also had a niece with DCM who did not undergo genetic testing; however, no other DCM-related genes were analyzed (Begay et al., 2015); 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; This variant is associated with the following publications: (PMID: 26567375)
Invitae RCV000204623 SCV000261988 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2015-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002390478 SCV002698386 uncertain significance Cardiovascular phenotype 2019-12-12 criteria provided, single submitter clinical testing The p.S4637P variant (also known as c.13909T>C), located in coding exon 52 of the TTN gene, results from a T to C substitution at nucleotide position 13909. The serine at codon 4637 is replaced by proline, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002485240 SCV002790376 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2021-09-21 criteria provided, single submitter clinical testing

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