ClinVar Miner

Submissions for variant NM_001330723.2(SNX27):c.1427G>T (p.Arg476Leu)

gnomAD frequency: 0.00019  dbSNP: rs200106732
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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 RCV000638201 SCV000759687 uncertain significance Severe myoclonic epilepsy in infancy 2022-09-07 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 476 of the SNX27 protein (p.Arg476Leu). This variant is present in population databases (rs200106732, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with SNX27-related conditions. ClinVar contains an entry for this variant (Variation ID: 531720). 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: "Deleterious"; 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 RCV004025513 SCV004953508 uncertain significance Inborn genetic diseases 2021-08-10 criteria provided, single submitter clinical testing The c.1427G>T (p.R476L) alteration is located in exon 10 (coding exon 10) of the SNX27 gene. This alteration results from a G to T substitution at nucleotide position 1427, causing the arginine (R) at amino acid position 476 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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