ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.4103G>T (p.Gly1368Val)

dbSNP: rs2148487205
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV002276480 SCV002564200 uncertain significance Alpha thalassemia-X-linked intellectual disability syndrome; Intellectual disability-hypotonic facies syndrome, X-linked, 1 2021-09-03 criteria provided, single submitter clinical testing The c.4103G>T, p.Gly1368Val hemizygous missense variant has not been reported in the literature for ATRX-related disorders. This variant is absent in the gnomAD v3.1.1 database, suggesting it is not a common benign variant in the populations represented in this database. In silico tools predict conflicting interpretations of pathogenicity. Based on the available evidence, the missense variant c.4103G>T, p.Gly1368Val in the ATRX gene is classified as a Variant of Uncertain Significance

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