ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.91520C>T (p.Pro30507Leu)

gnomAD frequency: 0.00003  dbSNP: rs774107448
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000529078 SCV000643892 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-04-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765543 SCV000896858 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 2018-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002367865 SCV002658698 uncertain significance Cardiovascular phenotype 2018-10-06 criteria provided, single submitter clinical testing The p.P21442L variant (also known as c.64325C>T), located in coding exon 163 of the TTN gene, results from a C to T substitution at nucleotide position 64325. The proline at codon 21442 is replaced by leucine, 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.

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