ClinVar Miner

Submissions for variant NM_000174.5(GP9):c.20T>C (p.Leu7Pro)

dbSNP: rs121918038
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003556014 SCV004293151 uncertain significance not provided 2023-11-19 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 7 of the GP9 protein (p.Leu7Pro). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with Bernard-Soulier syndrome (PMID: 12100158). ClinVar contains an entry for this variant (Variation ID: 13534). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. Experimental studies have shown that this missense change affects GP9 function (PMID: 12100158). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
OMIM RCV000014489 SCV000034740 pathogenic Bernard-Soulier syndrome type C 2002-07-01 no assertion criteria provided literature only

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