ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.67960G>C (p.Asp22654His)

gnomAD frequency: 0.00001  dbSNP: rs144295295
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000040528 SCV000064219 uncertain significance not specified 2012-07-31 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Asp20086His var iant in TTN has not been reported in the literature but has been identified in 1 /194 Chinese and 2/178 Japanese individuals (dbSNP rs144295295, 1000 Genomes Pro ject). This frequency raises the possibility that the variant is not disease cau sing but is too low to rule out an effect. The affected amino acid is not well c onserved in evolution, also arguing against an impact of the variant to the prot ein. Additional information is needed to fully assess its clinical significance.
Athena Diagnostics RCV000040528 SCV000616128 uncertain significance not specified 2016-06-07 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001134379 SCV001294118 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-06-20 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV001135838 SCV001295643 uncertain significance Dilated cardiomyopathy 1G 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001135839 SCV001295644 benign Early-onset myopathy with fatal cardiomyopathy 2017-06-20 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina RCV001135840 SCV001295645 benign Tibial muscular dystrophy 2017-06-20 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina RCV001135841 SCV001295646 benign Myopathy, myofibrillar, 9, with early respiratory failure 2017-06-20 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.

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