ClinVar Miner

Submissions for variant NM_002968.2(SALL1):c.3157A>C (p.Met1053Leu) (rs1057523060)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000430109 SCV000530579 uncertain significance not provided 2016-08-05 criteria provided, single submitter clinical testing The Q1052X nonsense variant in the SALL1 is predicted to cause loss of normal protein function either throughprotein truncation or nonsense-mediated mRNA decay. Additionally, it was not observed in approximately 6,400individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is nota common benign variant in these populations. Therefore, this variant is likely pathogenic; however, the possibilitythat it is benign cannot be excluded.

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