ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.39539C>G (p.Pro13180Arg)

gnomAD frequency: 0.00003  dbSNP: rs1039428520
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001526848 SCV001737553 uncertain significance not provided 2019-07-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004533951 SCV004114272 uncertain significance TTN-related disorder 2022-10-18 criteria provided, single submitter clinical testing The TTN c.39539C>G variant is predicted to result in the amino acid substitution p.Pro13180Arg. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0083% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-179516188-G-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Breakthrough Genomics, Breakthrough Genomics RCV001526848 SCV005188141 uncertain significance not provided criteria provided, single submitter not provided

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