ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.3242C>T (p.Ala1081Val) (rs1555572749)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000589375 SCV000699718 uncertain significance not provided 2017-06-16 criteria provided, single submitter clinical testing Variant summary: The BRIP1 c.3242C>T (p.Ala1081Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. 3/4 in silico tools predict a benign outcome for this variant (SNPsandGO not available). The variant of interest is located outside of any known functional domain or repeat. The variant of interest has not been found in a large, broad control population, ExAC in 121194 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS).

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