ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.47866G>A (p.Asp15956Asn)

gnomAD frequency: 0.00006  dbSNP: rs372881122
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000538291 SCV000643243 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-08-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002420453 SCV002727662 uncertain significance Cardiovascular phenotype 2019-07-29 criteria provided, single submitter clinical testing The p.D6891N variant (also known as c.20671G>A), located in coding exon 82 of the TTN gene, results from a G to A substitution at nucleotide position 20671. The aspartic acid at codon 6891 is replaced by asparagine, an amino acid with highly similar properties. 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 RCV002491040 SCV002797610 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 2021-07-28 criteria provided, single submitter clinical testing

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