ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.106680G>C (p.Lys35560Asn)

gnomAD frequency: 0.00001  dbSNP: rs779206858
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002243601 SCV002512339 uncertain significance Dilated cardiomyopathy 1G; Hypertrophic cardiomyopathy 9 2022-01-28 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderate, BP4 supporting
Labcorp Genetics (formerly Invitae), Labcorp RCV003093934 SCV003278350 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2022-07-17 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 35560 of the TTN protein (p.Lys35560Asn). This variant is located in the M band of TTN (PMID: 25589632). Variants in this region may be relevant for neuromuscular disorders, but have not been definitively shown to cause cardiomyopathy (PMID: 23975875). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 1683558). This variant has not been reported in the literature in individuals affected with TTN-related conditions. This variant is present in population databases (rs779206858, gnomAD 0.006%).

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