ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.47705G>A (p.Gly15902Glu)

gnomAD frequency: 0.00009  dbSNP: rs561284948
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000643525 SCV000765212 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-09-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002422317 SCV002728948 uncertain significance Cardiovascular phenotype 2020-02-25 criteria provided, single submitter clinical testing The p.G6837E variant (also known as c.20510G>A), located in coding exon 81 of the TTN gene, results from a G to A substitution at nucleotide position 20510. The glycine at codon 6837 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002483851 SCV002782869 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 2021-10-25 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003140007 SCV003821170 uncertain significance not provided 2019-09-17 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003994060 SCV004813379 uncertain significance not specified 2024-02-05 criteria provided, single submitter clinical testing Variant summary: TTN c.40001G>A (p.Gly13334Glu) results in a non-conservative amino acid change located in the A-band region of the encoded protein sequence. Three of four in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 1.4e-05 in 216416 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.40001G>A in individuals affected with Dilated Cardiomyopathy or other TTN-related disorders and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 535505). Based on the evidence outlined above, the variant was classified as uncertain significance.

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