ClinVar Miner

Submissions for variant NM_001982.4(ERBB3):c.4009G>A (p.Ala1337Thr)

gnomAD frequency: 0.00014  dbSNP: rs755855285
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine RCV000239667 SCV000298030 likely pathogenic Erythroleukemia, familial, susceptibility to criteria provided, single submitter research
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003323478 SCV004029356 uncertain significance not specified 2023-07-24 criteria provided, single submitter clinical testing Variant summary: ERBB3 c.4009G>A (p.Ala1337Thr) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00011 in 247050 control chromosomes (gnomAD). To our knowledge, c.4009G>A has not been reported in the literature in individuals affected with Lethal congenital contracture syndrome 2. At least one publication reports experimental evidence evaluating an impact on protein function, however, does not allow convincing conclusions about the variant effect (example: Braunstein_2016). The following publication has been ascertained in the context of this evaluation (PMID: 27416908). Based on the evidence outlined above, the variant was classified as uncertain significance.
OMIM RCV000239667 SCV000852036 risk factor Erythroleukemia, familial, susceptibility to 2024-10-16 no assertion criteria provided literature only

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