ClinVar Miner

Submissions for variant NM_006950.3(SYN1):c.1648_1649delinsTT (p.Ala550Phe)

dbSNP: rs2057770383
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001214414 SCV001386096 uncertain significance Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders 2022-08-16 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SYN1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the gnomAD database. This sequence change replaces alanine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 550 of the SYN1 protein (p.Ala550Phe). ClinVar contains an entry for this variant (Variation ID: 944089). 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown.

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