ClinVar Miner

Submissions for variant NM_005993.5(TBCD):c.686T>G (p.Leu229Arg)

gnomAD frequency: 0.00001  dbSNP: rs778417127
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV000258908 SCV003818986 uncertain significance Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome 2019-06-27 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004701361 SCV005202605 uncertain significance not specified 2024-07-11 criteria provided, single submitter clinical testing Variant summary: TBCD c.686T>G (p.Leu229Arg) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 2e-05 in 249140 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.686T>G has been reported in the literature in at least one compound heterozygous individual affected with Encephalopathy, Early Onset (e.g. Flex_2016). These data do not allow clear conclusions about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication have been ascertained in the context of this evaluation (PMID: 27666370). ClinVar contains an entry for this variant (Variation ID: 268173). Based on the evidence outlined above, the variant was classified as uncertain significance.
OMIM RCV000258908 SCV000328662 pathogenic Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome 2016-11-16 no assertion criteria provided literature only

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