ClinVar Miner

Submissions for variant NM_006017.3(PROM1):c.376G>A (p.Val126Met)

gnomAD frequency: 0.00009  dbSNP: rs199556426
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001147173 SCV001307958 likely benign Stargardt disease 4 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV001147174 SCV001307959 uncertain significance Retinitis pigmentosa 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001147175 SCV001307960 uncertain significance Retinal macular dystrophy type 2 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001147176 SCV001307961 benign Cone-rod dystrophy 12 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV001241210 SCV001414214 likely benign not provided 2024-08-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001241210 SCV003916890 uncertain significance not provided 2023-02-01 criteria provided, single submitter clinical testing PROM1: PM2, BP4
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004813803 SCV005071067 uncertain significance Retinal dystrophy 2019-01-01 criteria provided, single submitter clinical testing

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