ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.31821G>T (p.Lys10607Asn)

gnomAD frequency: 0.00004  dbSNP: rs746722623
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000597481 SCV000702546 uncertain significance not provided 2016-10-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000643432 SCV000765119 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-09-20 criteria provided, single submitter clinical testing
Baylor Genetics RCV001332822 SCV001525247 uncertain significance Dilated cardiomyopathy 1G 2020-03-17 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Fulgent Genetics, Fulgent Genetics RCV002506411 SCV002817045 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 2021-10-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004527673 SCV004104812 uncertain significance TTN-related disorder 2023-02-02 criteria provided, single submitter clinical testing The TTN c.31821G>T variant is predicted to result in the amino acid substitution p.Lys10607Asn. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.021% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-179554565-C-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
GeneDx RCV000597481 SCV005401400 uncertain significance not provided 2024-05-13 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Missense variant in a gene in which most reported pathogenic variants are truncating/loss of function; Has not been previously published as pathogenic or benign to our knowledge; Located in a region of TTN within the I-band in which the majority of loss of function variants are significantly associated with autosomal dominant titinopathies (PMID: 27625338, 27869827)

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