Submissions for variant NM_152722.5(HEPACAM):c.591C>T (p.Pro197=)

gnomAD frequency: 0.00031  dbSNP: rs201011094

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000294554	SCV000368547	uncertain significance	Megalencephalic leukoencephalopathy with subcortical cysts	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000923638	SCV001069123	likely benign	not provided	2023-11-14	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000923638	SCV001748339	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	HEPACAM: BP4, BP7
GeneDx	RCV000923638	SCV001756670	likely benign	not provided	2021-01-13	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001820888	SCV002064873	likely benign	not specified	2019-12-06	criteria provided, single submitter	clinical testing