ClinVar Miner

Submissions for variant NM_019892.6(INPP5E):c.676C>T (p.Leu226Phe)

gnomAD frequency: 0.00002  dbSNP: rs761485683
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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 RCV001046249 SCV001210144 uncertain significance Familial aplasia of the vermis 2022-11-08 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 226 of the INPP5E protein (p.Leu226Phe). This variant is present in population databases (rs761485683, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with INPP5E-related conditions. ClinVar contains an entry for this variant (Variation ID: 843588). 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 tolerated. 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 RCV004986758 SCV005606084 uncertain significance Inborn genetic diseases 2024-10-12 criteria provided, single submitter clinical testing The c.676C>T (p.L226F) alteration is located in exon 1 (coding exon 1) of the INPP5E gene. This alteration results from a C to T substitution at nucleotide position 676, causing the leucine (L) at amino acid position 226 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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