ClinVar Miner

Submissions for variant NM_016180.5(SLC45A2):c.529_531del (p.Glu177del)

dbSNP: rs779024478
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001817962 SCV002067498 uncertain significance not specified 2020-06-12 criteria provided, single submitter clinical testing This sequence change of the SLC45A2 gene demonstrated a three base pair deletion in exon 2, c.529_531del. This in-frame deletion is predicted to result in the deletion of a single amino acid residue, p.Glu177del. This sequence change does not appear to have been previously described in patients with SLC45A2-related disorders and has been described in the gnomAD database in two heterozygous individuals which corresponds to a population frequency of 0.00080% (dbSNP rs779024478). This deletion does not occur in a repetitive region of the protein and affects a highly conserved amino acid. The functional significance of this sequence change is not known at present and its contribution to this patient's disease phenotype cannot definitively be determined.
Fulgent Genetics, Fulgent Genetics RCV005040404 SCV005671171 uncertain significance SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR; Oculocutaneous albinism type 4 2024-01-18 criteria provided, single submitter clinical testing

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