ClinVar Miner

Submissions for variant NM_000372.5(TYR):c.1184G>A (p.Ser395Asn)

dbSNP: rs752344007
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003464767 SCV004207601 pathogenic SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN 2023-06-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004741502 SCV005364069 likely pathogenic TYR-related disorder 2024-07-30 no assertion criteria provided clinical testing The TYR c.1184G>A variant is predicted to result in the amino acid substitution p.Ser395Asn. This variant has been reported in the compound heterozygous state in individuals with oculocutaneous albinism (Spritz et al. 1997. PubMed ID: 9259202; Table S1, Wei et al. 2021. PubMed ID: 34838614). This variant is predicted to have a damaging effect on the protein. This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD. Given the evidence, we interpret this variant as likely pathogenic.

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