ClinVar Miner

Submissions for variant NM_004465.2(FGF10):c.64T>C (p.Cys22Arg)

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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 RCV003087064 SCV003486666 uncertain significance not provided 2023-07-30 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 22 of the FGF10 protein (p.Cys22Arg). This variant is present in population databases (rs200247528, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with FGF10-related conditions. ClinVar contains an entry for this variant (Variation ID: 2171727). 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. 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 RCV003161840 SCV003868552 uncertain significance Inborn genetic diseases 2023-02-23 criteria provided, single submitter clinical testing The c.64T>C (p.C22R) alteration is located in exon 1 (coding exon 1) of the FGF10 gene. This alteration results from a T to C substitution at nucleotide position 64, causing the cysteine (C) at amino acid position 22 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005034702 SCV005673473 likely benign Congenital absence of salivary gland; Lacrimoauriculodentodigital syndrome 3 2024-06-10 criteria provided, single submitter clinical testing

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