Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000172328 | SCV000054997 | uncertain significance | not provided | 2013-06-24 | criteria provided, single submitter | research | |
Athena Diagnostics | RCV000172328 | SCV002770607 | uncertain significance | not provided | 2022-05-04 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002485106 | SCV002777455 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 | 2021-08-27 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000172328 | SCV003826672 | uncertain significance | not provided | 2019-10-16 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003398883 | SCV004122029 | uncertain significance | not specified | 2023-10-23 | criteria provided, single submitter | clinical testing | Variant summary: TTN c.37495G>A (p.Asp12499Asn) results in a conservative amino acid change located in the I-band domain of the encoded protein sequence. Three of four in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 6.1e-05 in 247384 control chromosomes. c.37495G>A has been reported in the literature in an infant affected with sudden cardiac death with an alternate predicted pathogenic variant (e.g. Campuzano_2018). These report(s) do not provide unequivocal conclusions about association of the variant with Dilated Cardiomyopathy. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 30086531). Three 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. |