ClinVar Miner

Submissions for variant NM_017565.4(FAM20A):c.625T>A (p.Cys209Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002712370 SCV003549952 uncertain significance Inborn genetic diseases 2022-10-26 criteria provided, single submitter clinical testing The c.625T>A (p.C209S) alteration is located in exon 3 (coding exon 3) of the FAM20A gene. This alteration results from a T to A substitution at nucleotide position 625, causing the cysteine (C) at amino acid position 209 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005021681 SCV005651054 uncertain significance Amelogenesis imperfecta type 1G 2024-04-10 criteria provided, single submitter clinical testing

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