ClinVar Miner

Submissions for variant NM_001324445.2(ADAT1):c.175A>G (p.Lys59Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004902348 SCV005561811 uncertain significance not specified 2024-07-17 criteria provided, single submitter clinical testing The c.175A>G (p.K59E) alteration is located in exon 4 (coding exon 2) of the ADAT1 gene. This alteration results from a A to G substitution at nucleotide position 175, causing the lysine (K) at amino acid position 59 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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