ClinVar Miner

Submissions for variant NM_003900.5(SQSTM1):c.734C>T (p.Ala245Val)

gnomAD frequency: 0.00002  dbSNP: rs762767720
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000946105 SCV001092202 likely benign Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; Paget disease of bone 2, early-onset 2024-11-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV004962966 SCV005510525 uncertain significance Inborn genetic diseases 2024-12-09 criteria provided, single submitter clinical testing The c.734C>T (p.A245V) alteration is located in exon 5 (coding exon 5) of the SQSTM1 gene. This alteration results from a C to T substitution at nucleotide position 734, causing the alanine (A) at amino acid position 245 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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