Submissions for variant NM_000173.7(GP1BA):c.673T>C (p.Cys225Arg)

dbSNP: rs1394634674

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Baylor Genetics	RCV001333272	SCV001525806	uncertain significance	Bernard Soulier syndrome	2018-09-28	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003479314	SCV004223702	uncertain significance	not specified	2023-11-13	criteria provided, single submitter	clinical testing	Variant summary: GP1BA c.673T>C (p.Cys225Arg) results in a non-conservative amino acid change in the encoded protein sequence. Four of four in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 249268 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.673T>C in individuals affected with Bernard-Soulier Syndrome, Type A2, Autosomal Dominant or Bernard-Soulier Syndrome, Type A1, Autosomal Recessive, and no experimental evidence demonstrating its impact on protein function have been reported. One submitter has cited clinical-significance assessments for this variant to ClinVar after 2014 and has classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.