ClinVar Miner

Submissions for variant NM_001330723.2(SNX27):c.1571G>A (p.Arg524Lys)

gnomAD frequency: 0.00003  dbSNP: rs751866300
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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 RCV001206053 SCV001377340 uncertain significance Severe myoclonic epilepsy in infancy 2019-09-20 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with SNX27-related conditions. This variant is present in population databases (rs751866300, ExAC 0.02%). This sequence change replaces arginine with lysine at codon 524 of the SNX27 protein (p.Arg524Lys). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and lysine. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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 RCV005278758 SCV005939979 uncertain significance Inborn genetic diseases 2025-01-17 criteria provided, single submitter clinical testing The c.1571G>A (p.R524K) alteration is located in exon 11 (coding exon 11) of the SNX27 gene. This alteration results from a G to A substitution at nucleotide position 1571, causing the arginine (R) at amino acid position 524 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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