ClinVar Miner

Submissions for variant NM_005522.4(HOXA1):c.175dup (p.Val59fs) (rs769152039)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008325 SCV001168093 pathogenic not provided 2019-04-01 criteria provided, single submitter clinical testing The c.175dupG variant in the HOXA1 gene has been reported previously as a homozygous variant in association with Bosley-Salih-Alorainy syndrome (Tischfield et al., 2005). The c.175dupG variant causes a frameshift starting with codon Valine 59, changes this amino acid to a Glycine residue, and creates a premature Stop codon at position 119 of the new reading frame, denoted p.Val59GlyfsX119. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.175dupG variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.175dupG as a pathogenic variant.
OMIM RCV000016027 SCV000036294 pathogenic Bosley-Salih-Alorainy syndrome 2008-05-15 no assertion criteria provided literature only
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City RCV000984930 SCV001132843 pathogenic Human HOXA1 syndromes 2019-01-29 no assertion criteria provided clinical testing

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