ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.96392T>C (p.Ile32131Thr)

dbSNP: rs978818932
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000530966 SCV000643958 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002367874 SCV002661475 uncertain significance Cardiovascular phenotype 2020-08-19 criteria provided, single submitter clinical testing The p.I23066T variant (also known as c.69197T>C), located in coding exon 174 of the TTN gene, results from a T to C substitution at nucleotide position 69197. The isoleucine at codon 23066 is replaced by threonine, an amino acid with similar properties. This amino acid position is 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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