ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.56822C>T (p.Ala18941Val)

gnomAD frequency: 0.00004  dbSNP: rs754264431
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000642998 SCV000764685 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-12-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002440297 SCV002752057 uncertain significance Cardiovascular phenotype 2019-12-04 criteria provided, single submitter clinical testing The p.A9876V variant (also known as c.29627C>T), located in coding exon 118 of the TTN gene, results from a C to T substitution at nucleotide position 29627. The alanine at codon 9876 is replaced by valine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004735698 SCV005348614 uncertain significance TTN-related disorder 2024-05-17 no assertion criteria provided clinical testing The TTN c.56822C>T variant is predicted to result in the amino acid substitution p.Ala18941Val. This variant was reported in a healthy control but not affected individuals in a dilated cardiomyopathy case-control study (Table S4, Mazzarotto et al. 2020. PubMed ID: 31983221). This variant is reported in 0.0086% of alleles in individuals of European (Non-Finnish) descent in gnomAD. 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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