ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.69044C>T (p.Ala23015Val)

gnomAD frequency: 0.00003  dbSNP: rs771710562
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000457085 SCV000542826 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-10-05 criteria provided, single submitter clinical testing
GeneDx RCV000608680 SCV000721637 likely benign not specified 2017-07-28 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga) RCV000727783 SCV000855179 uncertain significance not provided 2018-07-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002329022 SCV002626988 uncertain significance Cardiovascular phenotype 2020-03-19 criteria provided, single submitter clinical testing The p.A13950V variant (also known as c.41849C>T), located in coding exon 151 of the TTN gene, results from a C to T substitution at nucleotide position 41849. The alanine at codon 13950 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000608680 SCV005039202 uncertain significance not specified 2024-03-22 criteria provided, single submitter clinical testing Variant summary: TTN c.61340C>T (p.Ala20447Val) results in a non-conservative amino acid change located in the A-band region of the encoded protein sequence. Two of four in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 4.4e-05 in 248356 control chromosomes (gnomAD v2.1). To our knowledge, no occurrence of c.61340C>T in individuals affected with Limb-Girdle Muscular Dystrophy, Type 2J and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 404970). Based on the evidence outlined above, the variant was classified as uncertain significance.

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