ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.67604G>A (p.Ser22535Asn) (rs375676529)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000203942 SCV000261414 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2015-10-20 criteria provided, single submitter clinical testing This sequence change replaces serine with asparagine at codon 22535 of the TTN protein (c.67604G>A). The serine residue is moderately conserved and there is a small physicochemical difference between serine and asparagine. This variant is present in population databases (rs375676529, ExAC 0.02%) but has not been reported in the literature. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). In summary, this is a rare missense change with uncertain impact on protein function. There is no indication that this variant causes disease, but the evidence is insufficient at this time to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000245927 SCV000318921 likely benign Cardiovascular phenotype 2020-07-07 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000291189 SCV000334584 uncertain significance not provided 2015-09-01 criteria provided, single submitter clinical testing
GeneDx RCV000291189 SCV001794538 likely benign not provided 2019-02-15 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 31983221)

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