ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.1304T>C (p.Met435Thr)

gnomAD frequency: 0.00001  dbSNP: rs770187975
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000642846 SCV000764533 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-09-14 criteria provided, single submitter clinical testing
GeneDx RCV001541839 SCV001759877 uncertain significance not provided 2019-09-03 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002386069 SCV002693740 uncertain significance Cardiovascular phenotype 2019-02-20 criteria provided, single submitter clinical testing The p.M435T variant (also known as c.1304T>C), located in coding exon 7 of the TTN gene, results from a T to C substitution at nucleotide position 1304. The methionine at codon 435 is replaced by threonine, an amino acid with similar properties. This amino acid position is not 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.

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