ClinVar Miner

Submissions for variant NM_006831.3(CLP1):c.427C>T (p.Arg143Cys)

gnomAD frequency: 0.00001  dbSNP: rs957840738
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001331648 SCV001523733 uncertain significance Pontocerebellar hypoplasia type 10 2019-12-28 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV004035717 SCV004926912 uncertain significance Inborn genetic diseases 2024-01-22 criteria provided, single submitter clinical testing The c.427C>T (p.R143C) alteration is located in exon 2 (coding exon 1) of the CLP1 gene. This alteration results from a C to T substitution at nucleotide position 427, causing the arginine (R) at amino acid position 143 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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