ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.71944A>G (p.Asn23982Asp)

gnomAD frequency: 0.00008  dbSNP: rs199755820
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000172265 SCV000054943 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Ambry Genetics RCV000252345 SCV000318450 uncertain significance Cardiovascular phenotype 2013-03-06 criteria provided, single submitter clinical testing There is insufficient or conflicting evidence for classification of this alteration.
Eurofins Ntd Llc (ga) RCV000172265 SCV000336072 uncertain significance not provided 2016-09-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000172265 SCV001152765 uncertain significance not provided 2019-06-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV001330307 SCV001521951 uncertain significance Myopathy, myofibrillar, 9, with early respiratory failure 2020-11-05 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Revvity Omics, Revvity RCV000172265 SCV003827275 uncertain significance not provided 2019-10-10 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003987418 SCV004804103 uncertain significance not specified 2024-01-03 criteria provided, single submitter clinical testing Variant summary: TTN c.64240A>G (p.Asn21414Asp) results in a conservative amino acid change located in the A band region of the encoded protein sequence. Three of four in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 8.5e-05 in 247984 control chromosomes (gnomAD). This frequency is not significantly higher than estimated for a pathogenic variant in TTN causing Limb-Girdle Muscular Dystrophy, Type 2J (8.5e-05 vs ND), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.64240A>G in individuals affected with Limb-Girdle Muscular Dystrophy, Type 2J and no experimental evidence demonstrating its impact on protein function have been reported. Four submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. All submitters classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

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