ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.8902C>T (p.Pro2968Ser)

gnomAD frequency: 0.00002  dbSNP: rs773875566
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000359067 SCV000345347 uncertain significance not provided 2016-09-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002374488 SCV002685110 uncertain significance Cardiovascular phenotype 2019-06-27 criteria provided, single submitter clinical testing The c.8764C>T variant (also known as p.P2922S), located in coding exon 35 of the TTN gene, results from a C to T substitution at nucleotide position 8764. The amino acid change results in proline to serine at codon 2922, an amino acid with similar properties. However, this change occurs in the last base pair of coding exon 35, which makes it likely to have some effect on normal mRNA splicing. 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 RCV002480057 SCV002786098 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 2021-09-16 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000359067 SCV003819565 uncertain significance not provided 2019-06-26 criteria provided, single submitter clinical testing

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