ClinVar Miner

Submissions for variant NM_000407.5(GP1BB):c.215C>T (p.Pro72Leu)

gnomAD frequency: 0.00020  dbSNP: rs755380704
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001336844 SCV001530347 uncertain significance Bernard Soulier syndrome 2018-04-09 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV004035815 SCV004878735 uncertain significance not specified 2023-11-13 criteria provided, single submitter clinical testing The c.215C>T (p.P72L) alteration is located in exon 2 (coding exon 2) of the GP1BB gene. This alteration results from a C to T substitution at nucleotide position 215, causing the proline (P) at amino acid position 72 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV004692576 SCV005195285 uncertain significance not provided criteria provided, single submitter not provided

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