ClinVar Miner

Submissions for variant NM_001972.4(ELANE):c.269C>T (p.Ser90Leu)

dbSNP: rs890280050
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001796388 SCV001378717 uncertain significance Cyclical neutropenia; Neutropenia, severe congenital, 1, autosomal dominant 2024-11-06 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 90 of the ELANE protein (p.Ser90Leu). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ELANE-related conditions. ClinVar contains an entry for this variant (Variation ID: 938192). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt ELANE protein function with a negative predictive value of 95%. 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 RCV002562335 SCV003534044 uncertain significance Inborn genetic diseases 2024-12-04 criteria provided, single submitter clinical testing The c.269C>T (p.S90L) alteration is located in exon 3 (coding exon 3) of the ELANE gene. This alteration results from a C to T substitution at nucleotide position 269, causing the serine (S) at amino acid position 90 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV001796388 SCV005651094 uncertain significance Cyclical neutropenia; Neutropenia, severe congenital, 1, autosomal dominant 2024-02-08 criteria provided, single submitter clinical testing

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