ClinVar Miner

Submissions for variant NM_003900.5(SQSTM1):c.105_123dup (p.Gly42fs)

dbSNP: rs1064794783
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000478804 SCV000569935 likely pathogenic not provided 2016-04-05 criteria provided, single submitter clinical testing The c.105_123dup19 variant in the SQSTM1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.105_123dup19 variant causes a frameshift starting with codon Glycine 42, changes this amino acid to an Arginine residue, and creates a premature Stop codon at position 35 of the new reading frame, denoted p.Gly42ArgfsX35. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.105_123dup19 variant was not observed in approximately 5,200 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The c.105_123dup19 variant is a strong candidate for a pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded.
GenomeConnect, ClinGen RCV000509108 SCV000606999 not provided SQSTM1-related disorder no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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