ClinVar Miner

Submissions for variant NM_001330723.2(SNX27):c.1124T>G (p.Leu375Arg)

gnomAD frequency: 0.00007  dbSNP: rs749329909
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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 RCV001227611 SCV001399973 uncertain significance Severe myoclonic epilepsy in infancy 2022-10-25 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 375 of the SNX27 protein (p.Leu375Arg). This variant is present in population databases (rs749329909, gnomAD 0.02%). 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: 955042). 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 disruptive. 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 RCV003353226 SCV004076829 uncertain significance Inborn genetic diseases 2023-06-22 criteria provided, single submitter clinical testing The c.1124T>G (p.L375R) alteration is located in exon 7 (coding exon 7) of the SNX27 gene. This alteration results from a T to G substitution at nucleotide position 1124, causing the leucine (L) at amino acid position 375 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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