ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.5572A>T (p.Ser1858Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003227449 SCV003923996 uncertain significance not provided 2023-05-03 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV005335749 SCV006002520 uncertain significance Inborn genetic diseases 2025-01-03 criteria provided, single submitter clinical testing The p.S1858C variant (also known as c.5572A>T), located in coding exon 21 of the FANCM gene, results from an A to T substitution at nucleotide position 5572. The serine at codon 1858 is replaced by cysteine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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