ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.2975G>A (p.Cys992Tyr)

gnomAD frequency: 0.00027  dbSNP: rs190790872
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000710506 SCV000228309 uncertain significance not provided 2014-11-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000545666 SCV000652513 likely benign Developmental and epileptic encephalopathy, 36 2024-12-22 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000710506 SCV000840742 uncertain significance not provided 2018-02-07 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001192895 SCV001361340 uncertain significance not specified 2019-07-25 criteria provided, single submitter clinical testing Variant summary: ALG13 c.2975G>A (p.Cys992Tyr) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. 4/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was detected in 7 female individuals at an overall frequency of 3.8e-05 in 183384 control chromosomes, predominantly at a frequency of 0.00024 within the Latino subpopulation in the gnomAD database. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.2975G>A in individuals affected with Epileptic encephalopathy, early infantile, 36 and no experimental evidence demonstrating its impact on protein function have been reported. Two ClinVar submitters (evaluation after 2014) cite the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
Revvity Omics, Revvity RCV000545666 SCV003826155 uncertain significance Developmental and epileptic encephalopathy, 36 2021-05-12 criteria provided, single submitter clinical testing

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