ClinVar Miner

Submissions for variant NM_030962.4(SBF2):c.1210C>T (p.Leu404Phe)

gnomAD frequency: 0.00005  dbSNP: rs764058215
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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 RCV001243986 SCV001417178 uncertain significance Charcot-Marie-Tooth disease type 4 2022-06-27 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 404 of the SBF2 protein (p.Leu404Phe). This variant is present in population databases (rs764058215, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with SBF2-related conditions. ClinVar contains an entry for this variant (Variation ID: 968773). 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 RCV002357040 SCV002653582 uncertain significance Inborn genetic diseases 2024-12-03 criteria provided, single submitter clinical testing The c.1210C>T (p.L404F) alteration is located in exon 12 (coding exon 12) of the SBF2 gene. This alteration results from a C to T substitution at nucleotide position 1210, causing the leucine (L) at amino acid position 404 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV004793349 SCV005412292 uncertain significance not provided 2024-07-19 criteria provided, single submitter clinical testing PM2

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