ClinVar Miner

Submissions for variant NM_023110.3(FGFR1):c.-88-3566dup

dbSNP: rs1424371425
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001174865 SCV001338256 uncertain significance not specified 2020-02-11 criteria provided, single submitter clinical testing Variant summary: FGFR1 c.-88-3566dupG (NM_023110.2) is located in the untranslated mRNA region upstream of the initiation codon. The variant is found to cause a frameshift change under a different transcript (NM_001174067: c.7dupG, p.Ala3GlyfsX27). The variant allele was found at a frequency of 7.4e-05 in 134600 control chromosomes (gnomAD). To our knowledge, no occurrence of the variant in individuals affected with FGFR1-Related Disorders and no experimental evidence demonstrating its impact on protein function have been reported. A ClinVar submitter (evaluation after 2014) cites the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
Fulgent Genetics, Fulgent Genetics RCV002485836 SCV002784887 uncertain significance Hypogonadotropic hypogonadism 2 with or without anosmia; Jackson-Weiss syndrome; Pfeiffer syndrome; Hartsfield-Bixler-Demyer syndrome; Osteoglophonic dysplasia; Trigonocephaly 1; Encephalocraniocutaneous lipomatosis 2022-04-04 criteria provided, single submitter clinical testing
Gharavi Laboratory, Columbia University RCV000722927 SCV000854058 uncertain significance not provided 2018-09-16 no assertion criteria provided research

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