ClinVar Miner

Submissions for variant NM_000372.4(TYR):c.1147G>A (p.Asp383Asn) (rs121908011)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Miraca Genetics Laboratories, RCV000680155 SCV000807627 pathogenic Tyrosinase-negative oculocutaneous albinism; Oculocutaneous albinism type 1B 2017-09-01 criteria provided, single submitter clinical testing This variant has been previously reported as disease-causing and was found once in our laboratory in trans with another pathogenic variant in a 3-year-old female with oculocutaneous albinism. Heterozygotes are expected to be asymptomatic carriers.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000177051 SCV000228866 pathogenic Oculocutaneous albinism type 1B 2015-03-10 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000085903 SCV000228867 pathogenic not provided 2015-03-10 criteria provided, single submitter clinical testing
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics RCV000003974 SCV000897701 pathogenic Tyrosinase-negative oculocutaneous albinism 2019-02-27 criteria provided, single submitter clinical testing The observed variant NM_000372.4 :c.1147G>A (p.Asp383Asn) is a missense variation found in exon 3 of the TYR gene. It is a known pathogenic variant and has been reported in the ExAC and gnomAD database with an allele frequency of 0.000165 and 0.00009358, respectively. The in silico prediction of this variant is disease causing by SIFT, PolyPhen2. The proband's parents are heterozygous carriers of the following mutations in the TYR gene: c.1147G>A (p.Asp383Asn) in exon 3 and c.1217C>T (p.pro406leu) in exon 4. As the parents are phenotypically normal, it is likely that these mutations are in a cis arrangement. The proband thus has both of the parent's mutations in trans with a third variant c.1110G>A, which is de novo. In summary, the variant meets the ACMG criteria to be classified as pathogenic based upon the evidence stated above.
Fulgent Genetics RCV000762870 SCV000893250 pathogenic Tyrosinase-negative oculocutaneous albinism; Oculocutaneous albinism type 1B; Albinism, ocular, with sensorineural deafness; Skin/hair/eye pigmentation, variation in, 3 2018-10-31 criteria provided, single submitter clinical testing
OMIM RCV000003974 SCV000024139 pathogenic Tyrosinase-negative oculocutaneous albinism 1991-02-01 no assertion criteria provided literature only
Retina International RCV000085903 SCV000118046 not provided not provided no assertion provided not provided
University of Washington Center for Mendelian Genomics,University of Washington RCV000755077 SCV000882895 likely pathogenic Nonsyndromic Oculocutaneous Albinism 2017-03-07 no assertion criteria provided research

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