ClinVar Miner

Submissions for variant NM_002968.3(SALL1):c.1762C>T (p.Pro588Ser)

dbSNP: rs771371721
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002551715 SCV003667531 uncertain significance Inborn genetic diseases 2022-12-21 criteria provided, single submitter clinical testing The c.1762C>T (p.P588S) alteration is located in exon 2 (coding exon 2) of the SALL1 gene. This alteration results from a C to T substitution at nucleotide position 1762, causing the proline (P) at amino acid position 588 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center RCV001252901 SCV001164044 uncertain significance Microcephaly no assertion criteria provided research

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