ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.185T>A (p.Phe62Tyr)

gnomAD frequency: 0.00022  dbSNP: rs779228581
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000358815 SCV000339665 uncertain significance not provided 2016-03-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002519221 SCV003288374 likely benign Mucopolysaccharidosis type 6 2024-01-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV003165746 SCV003875095 uncertain significance Inborn genetic diseases 2023-03-02 criteria provided, single submitter clinical testing The c.185T>A (p.F62Y) alteration is located in exon 1 (coding exon 1) of the ARSB gene. This alteration results from a T to A substitution at nucleotide position 185, causing the phenylalanine (F) at amino acid position 62 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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