ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.10654G>C (p.Ala3552Pro)

gnomAD frequency: 0.00005  dbSNP: rs774004409
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000547390 SCV000642596 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000762302 SCV000892606 uncertain significance not provided 2018-04-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002483429 SCV002794476 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 2021-09-07 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000762302 SCV004229370 uncertain significance not provided 2022-12-14 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity (http://gnomad.broadinstitute.org). This variant is in a coding region of the longest isoform of TTN, inferred model NM_001267550.1, however, it is in a non-coding region of the main skeletal and cardiac muscle isoforms of TTN.

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