ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.51355T>G (p.Phe17119Val)

gnomAD frequency: 0.00001  dbSNP: rs370696020
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000233260 SCV000286706 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2015-12-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002450680 SCV002735988 uncertain significance Cardiovascular phenotype 2019-09-18 criteria provided, single submitter clinical testing The p.F8054V variant (also known as c.24160T>G), located in coding exon 98 of the TTN gene, results from a T to G substitution at nucleotide position 24160. The phenylalanine at codon 8054 is replaced by valine, an amino acid with highly 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 RCV002494638 SCV002775377 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 2021-11-11 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003330595 SCV004039558 uncertain significance not specified 2023-08-15 criteria provided, single submitter clinical testing Variant summary: TTN c.43651T>G (p.Phe14551Val) results in a non-conservative amino acid change located in the A-band region of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 8.1e-05 in 248266 control chromosomes (gnomAD). This frequency is not significantly higher than estimated for a pathogenic variant in TTN causing Cardiomyopathy (8.1e-05 vs 0.00063), allowing no conclusion about variant significance. c.43651T>G has been reported in the literature in at least one individual affected with Cardiomyopathy without evidence for causality (Guelly_2021). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 33552729). Three ClinVar submitters have assessed the variant since 2014: all submitters classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

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