ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.3495_3500del (p.Asn1165_Lys1166del)

dbSNP: rs1557137281
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599216 SCV000710741 uncertain significance not provided 2020-01-10 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001854128 SCV002173969 uncertain significance Alpha thalassemia-X-linked intellectual disability syndrome 2022-10-26 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. This variant, c.3495_3500del, results in the deletion of 2 amino acid(s) of the ATRX protein (p.Asn1165_Lys1166del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ATRX-related conditions. ClinVar contains an entry for this variant (Variation ID: 504419). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown.

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