ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.88406C>T (p.Ala29469Val)

gnomAD frequency: 0.00002  dbSNP: rs397517740
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000040747 SCV000064438 uncertain significance not specified 2012-10-19 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Ala26901Val var iant in TTN has not been reported in the literature nor previously identified by our laboratory. Alanine (Ala) at position 26901 is not well conserved in evolut ion, suggesting that a change at this position may be tolerated. Additional comp utational analyses (biochemical amino acid properties, AlignGVGD, PolyPhen2, and SIFT) also suggest that the Ala26901Val variant may not impact the protein, tho ugh this information is not predictive enough to rule out pathogenicity. This va riant is unlikely to be disease causing but additional studies are needed to est ablish this with confidence.
Invitae RCV000643150 SCV000764837 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-08-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002354216 SCV002654403 uncertain significance Cardiovascular phenotype 2019-12-04 criteria provided, single submitter clinical testing The p.A20404V variant (also known as c.61211C>T), located in coding exon 158 of the TTN gene, results from a C to T substitution at nucleotide position 61211. The alanine at codon 20404 is replaced by valine, an amino acid with similar properties. This amino acid position is poorly 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.
Fulgent Genetics, Fulgent Genetics RCV002490568 SCV002789964 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 2022-02-11 criteria provided, single submitter clinical testing

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