ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.50396T>G (p.Val16799Gly)

gnomAD frequency: 0.00001  dbSNP: rs1222977459
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000620393 SCV000735533 uncertain significance Cardiovascular phenotype 2016-07-25 criteria provided, single submitter clinical testing The p.V7734G variant (also known as c.23201T>G), located in coding exon 95 of the TTN gene, results from a T to G substitution at nucleotide position 23201. The valine at codon 7734 is replaced by glycine, an amino acid with dissimilar properties, and is located in the A-band region of the N2-B isoform of the titin protein. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV003437329 SCV004152399 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing TTN: BP4

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