ClinVar Miner

Submissions for variant NM_016180.5(SLC45A2):c.533_534dup (p.Gly179fs)

gnomAD frequency: 0.00001  dbSNP: rs757344228
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001882612 SCV002245946 pathogenic not provided 2024-05-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly179Argfs*23) in the SLC45A2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC45A2 are known to be pathogenic (PMID: 21458243, 26573111). This variant is present in population databases (rs757344228, gnomAD 0.005%). This premature translational stop signal has been observed in individual(s) with oculocutaneous albinism (PMID: 34078970). ClinVar contains an entry for this variant (Variation ID: 1184503). For these reasons, this variant has been classified as Pathogenic.
PreventionGenetics, part of Exact Sciences RCV003394125 SCV004120126 pathogenic SLC45A2-related disorder 2022-12-09 criteria provided, single submitter clinical testing The SLC45A2 c.533_534dupAG variant is predicted to result in a frameshift and premature protein termination (p.Gly179Argfs*23). This variant was reported in the heterozygous state along with a second plausible causative variant in individuals with oculocutaneous albinism (Kruijt et al. 2021. PubMed ID: 34078970). This variant is reported in 0.0046% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/5-33982368-C-CCT). Frameshift variants in SLC45A2 are expected to be pathogenic. This variant is interpreted as pathogenic.
Genomics England Pilot Project, Genomics England RCV001542578 SCV001760161 pathogenic Oculocutaneous albinism type 4 no assertion criteria provided clinical testing

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