ClinVar Miner

Submissions for variant NM_001080397.3(SLC45A1):c.1582G>A (p.Val528Ile)

gnomAD frequency: 0.00016  dbSNP: rs367968730
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001330213 SCV001521831 uncertain significance Intellectual developmental disorder with neuropsychiatric features 2019-02-14 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Fulgent Genetics, Fulgent Genetics RCV001330213 SCV002775714 uncertain significance Intellectual developmental disorder with neuropsychiatric features 2021-09-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV004035690 SCV004951936 uncertain significance not specified 2023-02-09 criteria provided, single submitter clinical testing The c.1582G>A (p.V528I) alteration is located in exon 5 (coding exon 5) of the SLC45A1 gene. This alteration results from a G to A substitution at nucleotide position 1582, causing the valine (V) at amino acid position 528 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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