ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.96637G>A (p.Asp32213Asn)

gnomAD frequency: 0.00006  dbSNP: rs764561909
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000730978 SCV000237824 likely benign not provided 2020-12-18 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 31983221)
Invitae RCV000458037 SCV000542242 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-02-10 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000730978 SCV000858748 uncertain significance not provided 2017-12-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764304 SCV000895323 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 2018-10-31 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000730978 SCV001714030 uncertain significance not provided 2020-02-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002362967 SCV002662236 uncertain significance Cardiovascular phenotype 2019-01-07 criteria provided, single submitter clinical testing The p.D23148N variant (also known as c.69442G>A), located in coding exon 174 of the TTN gene, results from a G to A substitution at nucleotide position 69442. The aspartic acid at codon 23148 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.
Revvity Omics, Revvity RCV000730978 SCV003827351 uncertain significance not provided 2020-03-26 criteria provided, single submitter clinical testing

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