ClinVar Miner

Submissions for variant NM_006950.3(SYN1):c.1711G>A (p.Gly571Ser)

dbSNP: rs1284009431
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001340373 SCV001534180 uncertain significance Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders 2024-05-15 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 571 of the SYN1 protein (p.Gly571Ser). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SYN1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1037249). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Ambry Genetics RCV002547399 SCV003564068 uncertain significance Inborn genetic diseases 2021-06-11 criteria provided, single submitter clinical testing The c.1711G>A (p.G571S) alteration is located in exon 12 (coding exon 12) of the SYN1 gene. This alteration results from a G to A substitution at nucleotide position 1711, causing the glycine (G) at amino acid position 571 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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