ClinVar Miner

Submissions for variant NM_001324445.2(ADAT1):c.743C>A (p.Pro248His)

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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 RCV004902290 SCV005561752 uncertain significance not specified 2024-09-09 criteria provided, single submitter clinical testing The c.743C>A (p.P248H) alteration is located in exon 7 (coding exon 5) of the ADAT1 gene. This alteration results from a C to A substitution at nucleotide position 743, causing the proline (P) at amino acid position 248 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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