ClinVar Miner

Submissions for variant NM_006662.3(SRCAP):c.7520C>T (p.Pro2507Leu)

dbSNP: rs2053173193
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Total submissions: 2
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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 RCV001260450 SCV001437457 uncertain significance not specified 2020-09-30 criteria provided, single submitter clinical testing Variant summary: SRCAP c.7520C>T (p.Pro2507Leu) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant was absent in 251392 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.7520C>T in individuals affected with Floating-Harbor Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.
Fulgent Genetics, Fulgent Genetics RCV002504378 SCV002815991 uncertain significance Floating-Harbor syndrome; Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities 2021-08-25 criteria provided, single submitter clinical testing

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