ClinVar Miner

Submissions for variant NM_001002010.5(NT5C3A):c.406A>G (p.Thr136Ala)

gnomAD frequency: 0.00011  dbSNP: rs141651499
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001158 SCV001158307 uncertain significance Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency 2019-03-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002549155 SCV003288482 uncertain significance not provided 2022-04-30 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 102 of the NT5C3A protein (p.Thr102Ala). This variant is present in population databases (rs141651499, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with NT5C3A-related conditions. ClinVar contains an entry for this variant (Variation ID: 811355). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV004030266 SCV003728336 uncertain significance not specified 2022-11-10 criteria provided, single submitter clinical testing The c.304A>G (p.T102A) alteration is located in exon 6 (coding exon 5) of the NT5C3A gene. This alteration results from a A to G substitution at nucleotide position 304, causing the threonine (T) at amino acid position 102 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV001001158 SCV003814184 uncertain significance Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency 2021-02-11 criteria provided, single submitter clinical testing

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