ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.97G>C (p.Asp33His) (rs386833401)

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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 RCV001019769 SCV001181171 uncertain significance Hereditary cancer-predisposing syndrome 2019-02-20 criteria provided, single submitter clinical testing The p.D33H variant (also known as c.97G>C), located in coding exon 1 of the FLCN gene, results from a G to C substitution at nucleotide position 97. The aspartic acid at codon 33 is replaced by histidine, an amino acid with similar properties. This variant was detected as a secondary finding in 1 out of 572 ClinSeq participants, unselected for personal or family history of cancer, who underwent exome sequencing; however, the clinical information for this particular individual was not provided (Johnston JJ et al. Am. J. Hum. Genet. 2012 Jul;91:97-108). This alteration was also reported in a Danish woman who showed no signs of Birt-Hogg-Dubé syndrome and whose daughter had early-onset renal cell carcinoma (Rossing M et al. J. Hum. Genet. 2017 Feb;62:151-157). This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis.
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034798 SCV000043272 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.

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