ClinVar Miner

Submissions for variant NM_015450.3(POT1):c.1569G>A (p.Ser523=)

gnomAD frequency: 0.00002  dbSNP: rs773176095
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001089448 SCV000655153 likely benign Tumor predisposition syndrome 3 2025-01-01 criteria provided, single submitter clinical testing
GeneDx RCV000830865 SCV000972603 likely benign not provided 2021-10-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002404555 SCV002708789 uncertain significance Hereditary cancer-predisposing syndrome 2024-04-24 criteria provided, single submitter clinical testing The c.1569G>A variant (also known as p.S523S), located in coding exon 12 of the POT1 gene, results from a G to A substitution at nucleotide position 1569. This nucleotide substitution does not change the serine at codon 523. This nucleotide position is poorly conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive and direct evidence is insufficient at this time (Ambry internal data). Based on the available evidence, the clinical significance of this variant remains unclear.

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