ClinVar Miner

Submissions for variant NM_000132.3(F8):c.6991A>T (p.Ser2331Cys) (rs1557271047)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757249 SCV000885399 uncertain significance not provided 2017-12-15 criteria provided, single submitter clinical testing The F8 c.6991A>T; p.Ser2331Cys variant is not described in the medical literature, in gene-specific databases, or in the ClinVar database. The variant is not listed in the dbSNP variant database, but is listed in the Genome Aggregation Database in 2/176194 alleles, 1 hemizygote. The serine at this position is moderately conserved across species but computational algorithms do not reach a consensus as to the effect of this variant (AlignGVGD: C0 (Tolerated), SIFT: Tolerated, PolyPhen2: Probably Damaging). Considering available information, there is insufficient evidence to classify this variant with certainty.

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