ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.50850C>A (p.Asp16950Glu)

gnomAD frequency: 0.00019  dbSNP: rs200700386
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000460440 SCV000542709 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-04-04 criteria provided, single submitter clinical testing
GeneDx RCV001560476 SCV001782894 likely benign not provided 2018-08-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002446775 SCV002733225 uncertain significance Cardiovascular phenotype 2018-12-19 criteria provided, single submitter clinical testing The p.D7885E variant (also known as c.23655C>A), located in coding exon 96 of the TTN gene, results from a C to A substitution at nucleotide position 23655. The aspartic acid at codon 7885 is replaced by glutamic acid, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species; however, glutamic acid is the reference amino acid in other 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 RCV001560476 SCV003820140 likely benign not provided 2023-03-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004533147 SCV004119070 uncertain significance TTN-related disorder 2023-01-20 criteria provided, single submitter clinical testing The TTN c.50850C>A variant is predicted to result in the amino acid substitution p.Asp16950Glu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.074% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-179476106-G-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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