ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.35A>G (p.Asn12Ser)

gnomAD frequency: 0.00003  dbSNP: rs782399326
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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 RCV001239681 SCV001412573 likely benign Alpha thalassemia-X-linked intellectual disability syndrome 2024-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002563952 SCV003603485 uncertain significance Inborn genetic diseases 2022-01-27 criteria provided, single submitter clinical testing The c.35A>G (p.N12S) alteration is located in exon 2 (coding exon 2) of the ATRX gene. This alteration results from a A to G substitution at nucleotide position 35, causing the asparagine (N) at amino acid position 12 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV004809542 SCV005436525 likely benign not provided 2024-09-01 criteria provided, single submitter clinical testing ATRX: PP2, BS2

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