ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.2151C>T (p.Pro717=)

gnomAD frequency: 0.00010  dbSNP: rs374570732
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Total submissions: 9
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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 RCV000040025 SCV000063716 likely benign not specified 2011-11-16 criteria provided, single submitter clinical testing Pro717Pro in exon 14 of TTN: This variant does not change an amino acid and does not affect the splice consensus sequence. This makes a disease causing role ver y unlikely. Pro717Pro in exon 14 of TTN (allele frequency = n/a)
GeneDx RCV000040025 SCV000169315 benign not specified 2014-04-25 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.
Invitae RCV000473740 SCV000555242 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839556 SCV002101607 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839557 SCV002101608 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839558 SCV002101609 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839555 SCV002101610 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002415480 SCV002720306 likely benign Cardiovascular phenotype 2019-10-02 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003149642 SCV003838677 likely benign Cardiomyopathy 2021-06-02 criteria provided, single submitter clinical testing

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