ClinVar Miner

Submissions for variant NM_001370298.3(FGD4):c.506C>T (p.Ser169Leu)

gnomAD frequency: 0.00011  dbSNP: rs143251785
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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 RCV000823692 SCV000964560 uncertain significance Charcot-Marie-Tooth disease type 4 2023-08-24 criteria provided, single submitter clinical testing 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 665415). This variant has not been reported in the literature in individuals affected with FGD4-related conditions. This variant is present in population databases (rs143251785, gnomAD 0.04%). This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 32 of the FGD4 protein (p.Ser32Leu).
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173486 SCV001336575 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Ambry Genetics RCV003169055 SCV003885685 uncertain significance Inborn genetic diseases 2023-03-14 criteria provided, single submitter clinical testing The c.95C>T (p.S32L) alteration is located in exon 4 (coding exon 2) of the FGD4 gene. This alteration results from a C to T substitution at nucleotide position 95, causing the serine (S) at amino acid position 32 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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