ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.14999G>A (p.Arg5000His)

gnomAD frequency: 0.00006  dbSNP: rs377062348
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000494029 SCV000582095 uncertain significance not provided 2017-05-02 criteria provided, single submitter clinical testing The R3756H variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R3756H variant is observed in 1/49074 (0.002%) allele from individuals of European background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position where amino acids with similar properties to Arginine are tolerated across species. Additionally, the R3756H variant is not located in the A-band nor the M-line region of titin, where the majority of pathogenic truncating variants have been reported. However, in silico analysis predicts this variant is probably damaging to the protein structure/function.
Labcorp Genetics (formerly Invitae), Labcorp RCV000551993 SCV000642705 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-05-11 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000494029 SCV001474966 uncertain significance not provided 2020-06-09 criteria provided, single submitter clinical testing

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