ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.322G>A (p.Asp108Asn)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001047601 SCV001211568 uncertain significance Hypertrophic cardiomyopathy 2020-08-08 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 108 of the TNNI3 protein (p.Asp108Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs766958196, ExAC 0.002%). This variant has not been reported in the literature in individuals with TNNI3-related conditions. 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: Possibly Damaging; Align-GVGD: Class C0). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.
Color Health, Inc RCV001176652 SCV001340690 uncertain significance Cardiomyopathy 2018-12-06 criteria provided, single submitter clinical testing

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