ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.1964C>A (p.Ala655Asp)

dbSNP: rs763912778
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000529415 SCV000642770 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-07-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002413547 SCV002710541 uncertain significance Cardiovascular phenotype 2018-12-03 criteria provided, single submitter clinical testing The p.A609D variant (also known as c.1826C>A), located in coding exon 11 of the TTN gene, results from a C to A substitution at nucleotide position 1826. The alanine at codon 609 is replaced by aspartic acid, an amino acid with dissimilar properties. This amino acid position is well 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.

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