ClinVar Miner

Submissions for variant NM_017791.3(FLVCR2):c.391dup (p.Met131fs)

dbSNP: rs1594785775
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000826106 SCV000967614 likely pathogenic Fowler syndrome 2018-11-08 criteria provided, single submitter clinical testing The p.Met131AsnfsX79 variant in FLVCR2 has not been previously reported in indiv iduals with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome , also known as Fowler syndrome, and was absent from large population studies. T his variant is predicted to cause a frameshift, which alters the protein?s amino acid sequence beginning at position 131 and leads to a premature termination co don 79 amino acids downstream. This alteration is then predicted to lead to a tr uncated or absent protein. In summary, although additional studies are required to fully establish its clinical significance, the p.Met131AsnfsX79 variant is li kely pathogenic. ACMG/AMP Criteria applied: PVS1_Strong, PM2.

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