ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.1142_1146del (p.Val381fs) (rs1595798033)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008201 SCV001167967 likely pathogenic not provided 2018-06-14 criteria provided, single submitter clinical testing The c.1142_1146delTAAAG variant in the HEXA gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1142_1146delTAAAG variant causes a frameshift starting with codon Valine 381, changes this amino acid to an Aspartic Acid residue, and creates a premature Stop codon at position 48 of the new reading frame, denoted p.Val381AspfsX48. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1142_1146delTAAAG variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.1142_1146delTAAAG as a likely pathogenic variant.

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