ClinVar Miner

Submissions for variant NM_020207.7(ERCC6L2):c.3492+2T>G (rs1588013817)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Institute Rare Disease Group,Broad Institute RCV001004901 SCV001164399 uncertain significance Bone marrow failure syndrome 2 2018-12-03 criteria provided, single submitter research The homozygous c.407+2T>G variant in ERCC6L2 was identified by our study in one individual with bone marrow failure syndrome. This variant was absent from large population studies. The c.407+2T>G variant occurs in the invariant region (+/- 1/2) of the splice consensus sequence and is predicted to cause altered splicing and a frameshift in the reading frame, leading to an abnormal or absent protein. Only six cases of ERCC6L2 - associated bone marrow failure syndrome have been reported in the literature and all six individuals were homozygous for a loss of function variant (PMID: 29633571). Loss of function of the ERCC6L2 gene is a moderately disease mechanism in autosomal recessive bone marrow failure syndrome. In summary, while there is some suspicion for a pathogenic role, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2, PVS1_Moderate (Richards 2015).

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