ClinVar Miner

Submissions for variant NM_006579.3(EBP):c.283G>A (p.Ala95Thr)

dbSNP: rs2147154752
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001810770 SCV002048178 uncertain significance not provided 2020-10-01 criteria provided, single submitter clinical testing The EBP c.283G>A; p.Ala95Thr variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is also absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. The alanine at codon 95 is weakly conserved, but computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.39). Due to limited information, the clinical significance of the p.Ala95Thr variant is uncertain at this time.
Fulgent Genetics, Fulgent Genetics RCV002506834 SCV002814846 uncertain significance Chondrodysplasia punctata 2 X-linked dominant; MEND syndrome 2022-05-04 criteria provided, single submitter clinical testing

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