ClinVar Miner

Submissions for variant NM_002049.4(GATA1):c.1045G>A (p.Val349Met)

gnomAD frequency: 0.00014  dbSNP: rs199710067
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001517671 SCV001726214 benign Diamond-Blackfan anemia; GATA binding protein 1 related thrombocytopenia with dyserythropoiesis 2023-10-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000866495 SCV001748345 likely benign not provided 2021-04-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004619441 SCV005124139 uncertain significance Inborn genetic diseases 2024-04-26 criteria provided, single submitter clinical testing The c.1045G>A (p.V349M) alteration is located in exon 6 (coding exon 5) of the GATA1 gene. This alteration results from a G to A substitution at nucleotide position 1045, causing the valine (V) at amino acid position 349 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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