ClinVar Miner

Submissions for variant NM_003900.5(SQSTM1):c.1207T>A (p.Ser403Thr)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002474117 SCV002770183 uncertain significance not provided 2024-06-06 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002571508 SCV003447493 likely benign Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; Paget disease of bone 2, early-onset 2024-08-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV004064255 SCV004957203 uncertain significance Inborn genetic diseases 2023-11-14 criteria provided, single submitter clinical testing The c.1207T>A (p.S403T) alteration is located in exon 8 (coding exon 8) of the SQSTM1 gene. This alteration results from a T to A substitution at nucleotide position 1207, causing the serine (S) at amino acid position 403 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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