ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.5000A>G (p.Tyr1667Cys)

gnomAD frequency: 0.00001  dbSNP: rs140494897
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000548113 SCV000643284 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-06-27 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000729096 SCV000856735 uncertain significance not provided 2017-09-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002341346 SCV002639397 uncertain significance Cardiovascular phenotype 2020-05-06 criteria provided, single submitter clinical testing The p.Y1621C variant (also known as c.4862A>G), located in coding exon 26 of the TTN gene, results from an A to G substitution at nucleotide position 4862. The tyrosine at codon 1621 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002497144 SCV002814251 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 2021-07-01 criteria provided, single submitter clinical testing

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