ClinVar Miner

Submissions for variant NM_017565.4(FAM20A):c.316G>A (p.Glu106Lys)

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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 RCV004977445 SCV005584666 uncertain significance Inborn genetic diseases 2024-11-26 criteria provided, single submitter clinical testing The c.316G>A (p.E106K) alteration is located in exon 1 (coding exon 1) of the FAM20A gene. This alteration results from a G to A substitution at nucleotide position 316, causing the glutamic acid (E) at amino acid position 106 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005017335 SCV005650521 uncertain significance Amelogenesis imperfecta type 1G 2024-05-29 criteria provided, single submitter clinical testing

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