ClinVar Miner

Submissions for variant NM_016180.5(SLC45A2):c.986del (p.Thr329fs) (rs387906317)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724498 SCV000230363 pathogenic not provided 2014-12-16 criteria provided, single submitter clinical testing
GeneDx RCV000724498 SCV001167886 pathogenic not provided 2018-09-14 criteria provided, single submitter clinical testing The c.986delC variant in the SLC45A2 gene has been reported previously in the homozygous state or in the presence of another SLC45A2 variant in individuals with oculocutaneous albinism (Rundshagen et al., 2004; Balci et al., 2017). The c.986delC variant causes a frameshift starting with codon Theronine 329, changes this amino acid to a Arginine residue, and creates a premature Stop codon at position 69 of the new reading frame, denoted p.Thr329ArgfsX69. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.986delC variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.986delC as a pathogenic variant.
OMIM RCV000004758 SCV000024934 pathogenic Oculocutaneous albinism type 4 2004-02-01 no assertion criteria provided literature only

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