ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.31486C>G (p.His10496Asp)

dbSNP: rs1553860465
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000643540 SCV000765227 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-10-30 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756841 SCV000884781 uncertain significance not provided 2018-01-04 criteria provided, single submitter clinical testing The TTN c.27754C>G; p.His9252Asp variant, to our knowledge, is not reported in the medical literature, gene specific variation databases, nor has it been previously identified by our laboratory. This variant is absent from the general population databases (1000 Genomes Project, Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. The histidine at position 9252 is moderately conserved, considering 10 species, and computational analyses of the effects of the p.His9252Asp variant on protein structure and function make conflicting predictions (SIFT: tolerated, MutationTaster: disease causing, AlignGVGD: Class C0). Given the available evidence, the clinical significance of the p.His9252Asp variant cannot be determined with certainty.

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