ClinVar Miner

Submissions for variant NM_001172509.2(SATB2):c.1704G>A (p.Met568Ile)

gnomAD frequency: 0.00001  dbSNP: rs1042085577
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002318769 SCV000850138 uncertain significance Inborn genetic diseases 2024-10-04 criteria provided, single submitter clinical testing The c.1704G>A (p.M568I) alteration is located in exon 11 (coding exon 9) of the SATB2 gene. This alteration results from a G to A substitution at nucleotide position 1704, causing the methionine (M) at amino acid position 568 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000824230 SCV000965119 benign Chromosome 2q32-q33 deletion syndrome 2023-11-19 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000824230 SCV003820665 uncertain significance Chromosome 2q32-q33 deletion syndrome 2021-11-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003437415 SCV004148382 uncertain significance not provided 2023-05-01 criteria provided, single submitter clinical testing SATB2: PP2

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