ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.97247C>T (p.Ser32416Leu)

gnomAD frequency: 0.00009  dbSNP: rs377412567
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001721174 SCV000237828 likely benign not provided 2020-08-07 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000345460 SCV000420571 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000381427 SCV000420572 uncertain significance Myopathy, myofibrillar, 9, with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000291952 SCV000420573 uncertain significance Early-onset myopathy with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000346821 SCV000420574 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000398371 SCV000420575 uncertain significance Tibial muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000311155 SCV000420576 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000469120 SCV000543102 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-10-07 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001844075 SCV002104049 uncertain significance not specified 2022-02-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002372136 SCV002668133 uncertain significance Cardiovascular phenotype 2019-06-25 criteria provided, single submitter clinical testing The p.S23351L variant (also known as c.70052C>T), located in coding exon 176 of the TTN gene, results from a C to T substitution at nucleotide position 70052. The serine at codon 23351 is replaced by leucine, an amino acid with dissimilar properties. This amino acid position is well 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.
Revvity Omics, Revvity RCV001721174 SCV003823604 uncertain significance not provided 2023-01-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004537562 SCV004117589 uncertain significance TTN-related disorder 2022-12-09 criteria provided, single submitter clinical testing The TTN c.97247C>T variant is predicted to result in the amino acid substitution p.Ser32416Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.012% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-179407236-G-A). 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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