ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.95195C>T (p.Pro31732Leu)

gnomAD frequency: 0.00001  dbSNP: rs753334568
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000684823 SCV000543162 pathogenic Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-11-19 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 31732 of the TTN protein (p.Pro31732Leu). This variant is present in population databases (rs753334568, gnomAD 0.003%). This missense change has been observed in individual(s) with hereditary myopathy with early respiratory failure (HMERF) (PMID: 22526018, 23486992, 23606733, 25500009). In at least one individual the variant was observed to be de novo. This variant is also known as c.90272C>T (p.Pro30091Leu) and c.68576C>T (p.Pro22859Leu). ClinVar contains an entry for this variant (Variation ID: 132137). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this missense change affects TTN function (PMID: 24636144). This variant is located in the A band of TTN (PMID: 25589632). Variants in this region may be relevant for cardiac or neuromuscular disorders (PMID: 25589632, 23975875). For these reasons, this variant has been classified as Pathogenic.
Eurofins NTD LLC (GA) RCV000727672 SCV000854982 pathogenic not provided 2017-12-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000727672 SCV001248005 pathogenic not provided 2018-12-01 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000727672 SCV001446810 likely pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
AiLife Diagnostics, AiLife Diagnostics RCV000727672 SCV002503099 likely pathogenic not provided 2021-12-14 criteria provided, single submitter clinical testing
GeneReviews RCV000119025 SCV000153727 pathogenic Myopathy, myofibrillar, 9, with early respiratory failure 2020-03-16 no assertion criteria provided literature only
PerkinElmer Genomics RCV000727672 SCV002022468 pathogenic not provided 2019-12-24 no assertion criteria provided clinical testing

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