ClinVar Miner

Submissions for variant NM_005993.5(TBCD):c.2983del (p.Glu995fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003408539 SCV004112737 likely pathogenic TBCD-related disorder 2023-03-21 criteria provided, single submitter clinical testing The TBCD c.2983delG variant is predicted to result in a frameshift and premature protein termination (p.Glu995Serfs*15). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0029% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/17-80887366-CG-C). Frameshift variants in TBCD are expected to be pathogenic. This variant is interpreted as likely pathogenic.
Revvity Omics, Revvity RCV003492876 SCV004238752 likely pathogenic Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome 2023-03-06 criteria provided, single submitter clinical testing

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