ClinVar Miner

Submissions for variant NM_003283.6(TNNT1):c.611G>A (p.Arg204Gln)

gnomAD frequency: 0.00001  dbSNP: rs765133367
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001061613 SCV001226361 uncertain significance Nemaline myopathy 5 2022-11-15 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 856207). This variant has not been reported in the literature in individuals affected with TNNT1-related conditions. This variant is present in population databases (rs765133367, gnomAD 0.0009%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 204 of the TNNT1 protein (p.Arg204Gln). This variant also falls at the last nucleotide of exon 11, which is part of the consensus splice site for this exon.
Revvity Omics, Revvity RCV003490051 SCV004238073 uncertain significance not provided 2023-06-27 criteria provided, single submitter clinical testing

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