ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1636A>G (p.Asn546Asp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002403465 SCV002707642 uncertain significance Hereditary cancer-predisposing syndrome 2021-11-12 criteria provided, single submitter clinical testing The p.N546D variant (also known as c.1636A>G), located in coding exon 11 of the FLCN gene, results from an A to G substitution at nucleotide position 1636. The asparagine at codon 546 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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