ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.36196G>A (p.Asp12066Asn)

gnomAD frequency: 0.00039  dbSNP: rs140655598
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV004799558 SCV001468750 uncertain significance Dilated cardiomyopathy 1G; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2019-07-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002480931 SCV002776651 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 2021-09-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004538563 SCV004121391 uncertain significance TTN-related disorder 2023-05-25 criteria provided, single submitter clinical testing The TTN c.36196G>A variant is predicted to result in the amino acid substitution p.Asp12066Asn. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.087% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-179529387-C-T). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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