ClinVar Miner

Submissions for variant NM_000550.3(TYRP1):c.1057_1060del (p.Asn353fs) (rs387906562)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000019164 SCV000245678 pathogenic Oculocutaneous albinism type 3 2014-08-04 criteria provided, single submitter clinical testing The Asn353ValfsX31 variant in TYRP1 has been reported in 1 Asian individual with oculocutaneous albinism type III (compound heterozygous) (Rooryck 2008). The Asn353ValfsX31 variant was not identified in large population studies. This frameshift variant is predicted to alter the protein’s amino acid sequence beginning at position 353 and lead to a premature termination codon 31 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. _x000D_In summary, this variant meets our criteria to be classified as pathogenic (http://pcpgm.partners.org/LMM) for oculocutaneous albinism type III acting in a recessive manner.
OMIM RCV000019164 SCV000039452 pathogenic Oculocutaneous albinism type 3 2009-07-01 no assertion criteria provided literature only

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