ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.1019C>T (p.Ser340Leu)

gnomAD frequency: 0.00001  dbSNP: rs745439347
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001365726 SCV001562006 uncertain significance Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections 2023-06-30 criteria provided, single submitter clinical testing 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1056839). This variant has not been reported in the literature in individuals affected with GATA2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 340 of the GATA2 protein (p.Ser340Leu).
Ambry Genetics RCV002548572 SCV003737763 uncertain significance Inborn genetic diseases 2022-11-30 criteria provided, single submitter clinical testing The c.1019C>T (p.S340L) alteration is located in exon 5 (coding exon 4) of the GATA2 gene. This alteration results from a C to T substitution at nucleotide position 1019, causing the serine (S) at amino acid position 340 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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