ClinVar Miner

Submissions for variant NM_012431.3(SEMA3E):c.621del (p.Arg208fs)

dbSNP: rs2115654665
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genologica Medica RCV001824193 SCV002073681 likely pathogenic CHARGE syndrome 2021-02-15 criteria provided, single submitter clinical testing The change detected in exon 6 of the SEMA3E gene leads to the substitution of an arginine for an aspartic acid in codon 208 of the protein and the change of the reading frame with the generation of a premature stop codon (p.Arg208Aspfs* 15), expecting a dysfunctional or absent protein product. This change has not been reported in population databases, as this region of the genome is well covered in these large cohort studies (genomAD). These variants have not been described in clinical databases in relation to pathology. Predictions from in silico algorithms that determine the possible impact of a change in protein structure and function are either unavailable or inconsistent, and no functional studies have been conducted in this regard. Therefore, based on the available evidence, we classify this alteration as a probably pathogenic variant.
OMIM RCV003152637 SCV003840926 uncertain significance not provided 2024-05-28 no assertion criteria provided literature only

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