ClinVar Miner

Submissions for variant NM_001002010.5(NT5C3A):c.577C>A (p.Pro193Thr)

gnomAD frequency: 0.00002  dbSNP: rs780736989
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001803490 SCV002048139 uncertain significance Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency 2021-03-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV004837812 SCV005460332 uncertain significance not specified 2024-10-03 criteria provided, single submitter clinical testing The c.475C>A (p.P159T) alteration is located in exon 8 (coding exon 7) of the NT5C3A gene. This alteration results from a C to A substitution at nucleotide position 475, causing the proline (P) at amino acid position 159 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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