ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.48683G>A (p.Arg16228His)

gnomAD frequency: 0.00012  dbSNP: rs368806005
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704901 SCV000237236 likely benign not provided 2021-05-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000643158 SCV000764845 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-11-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002426895 SCV002730407 uncertain significance Cardiovascular phenotype 2019-10-23 criteria provided, single submitter clinical testing The p.R7163H variant (also known as c.21488G>A), located in coding exon 87 of the TTN gene, results from a G to A substitution at nucleotide position 21488. The arginine at codon 7163 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004537547 SCV004120213 uncertain significance TTN-related disorder 2022-09-26 criteria provided, single submitter clinical testing The TTN c.48683G>A variant is predicted to result in the amino acid substitution p.Arg16228His. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.034% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-179479651-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Mayo Clinic Laboratories, Mayo Clinic RCV001704901 SCV005413094 uncertain significance not provided 2023-06-21 criteria provided, single submitter clinical testing

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