ClinVar Miner

Submissions for variant NM_130811.4(SNAP25):c.404G>A (p.Arg135His)

gnomAD frequency: 0.00001  dbSNP: rs1315869651
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001706889 SCV001934447 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2020-07-15 criteria provided, single submitter clinical testing This variant was identified as de novo (maternity and paternity confirmed).
Labcorp Genetics (formerly Invitae), Labcorp RCV002539715 SCV003243390 uncertain significance Congenital myasthenic syndrome 18 2022-05-24 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1285532). This missense change has been observed in individual(s) with clinical features of SNAP25-related conditions (PMID: 33299146). In at least one individual the variant was observed to be de novo. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 135 of the SNAP25 protein (p.Arg135His).

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