Submissions for variant NM_198334.3(GANAB):c.367C>G (p.Pro123Ala)

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV003314892	SCV004014283	uncertain significance	not provided	2023-01-11	criteria provided, single submitter	clinical testing	Reported with a second GANAB variant (phase unknown) in a patient with polycystic kidney and liver disease in published literature (He et al., 2018); this patient was also reported with a PKD1 variant; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 30333007)
Labcorp Genetics (formerly Invitae), Labcorp	RCV003314892	SCV004540491	benign	not provided	2023-12-20	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004333269	SCV004873760	uncertain significance	Inborn genetic diseases	2023-11-20	criteria provided, single submitter	clinical testing	The c.367C>G (p.P123A) alteration is located in exon 4 (coding exon 4) of the GANAB gene. This alteration results from a C to G substitution at nucleotide position 367, causing the proline (P) at amino acid position 123 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences	RCV003919047	SCV004735130	likely benign	GANAB-related disorder	2020-06-22	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).