ClinVar Miner

Submissions for variant NM_016180.5(SLC45A2):c.986del (p.Thr329fs)

dbSNP: rs387906317
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724498 SCV000230363 pathogenic not provided 2014-12-16 criteria provided, single submitter clinical testing
GeneDx RCV000724498 SCV001167886 pathogenic not provided 2024-10-14 criteria provided, single submitter clinical testing Observed in the homozygous state or in the presence of another SLC45A2 variant in individuals with oculocutaneous albinism in the literature (PMID: 28170084, 14722913); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 21677667, 14722913, 28976636, Moreno-Artero2022[paper], 28298193, 24096233, 36553465, 28170084)
Genetic Services Laboratory, University of Chicago RCV000724498 SCV002072141 pathogenic not provided 2017-07-20 criteria provided, single submitter clinical testing
Baylor Genetics RCV004566683 SCV005056865 pathogenic SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR 2024-03-10 criteria provided, single submitter clinical testing
OMIM RCV000004758 SCV000024934 pathogenic Oculocutaneous albinism type 4 2004-02-01 no assertion criteria provided literature only

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