ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.27C>G (p.Ser9Arg) (rs757282628)

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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 RCV000587100 SCV000697438 uncertain significance not provided 2016-06-07 criteria provided, single submitter clinical testing Variant summary: The TP53 c.27C>G (p.Ser9Arg) variant involves the alteration of a non-conserved nucleotide. 4/5 in silico tools predict a damaging outcome. This variant was found in 1/118714 control chromosomes at a frequency of 0.0000084, which does not exceed the estimated maximal expected allele frequency of a pathogenic TP53 variant (0.0000398). 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 currently classified as a variant of uncertain significance (VUS) until additional information becomes available.

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