ClinVar Miner

Submissions for variant NM_000372.5(TYR):c.929dup (p.Arg311fs)

dbSNP: rs281865527
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000003969 SCV000597794 pathogenic Tyrosinase-negative oculocutaneous albinism 2016-07-25 criteria provided, single submitter clinical testing
GeneDx RCV000085980 SCV000617798 pathogenic not provided 2020-01-09 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 26252096, 1970634, 27829221, 2511845, 19865097, 23504663, 18590551, 1903591, 18463683, 11284711, 22042571, 16767664, 31199599, 31077556, 32901917, 10929771)
Ambry Genetics RCV000623277 SCV000742862 pathogenic Inborn genetic diseases 2017-09-20 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000003969 SCV001821951 pathogenic Tyrosinase-negative oculocutaneous albinism 2021-07-22 criteria provided, single submitter clinical testing
3billion RCV000003969 SCV002012353 pathogenic Tyrosinase-negative oculocutaneous albinism 2021-10-02 criteria provided, single submitter clinical testing Frameshift: predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant (PVS1_VS). It is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.00004379, PM2). The variant has been reported multiple times as an established pathogenic variant (ClinVar ID: VCV000264684.5). Patient's phenotype is considered compatible with Albinism, Oculicutaneous, Type 1A (3billion dataset, PP4). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
Invitae RCV000085980 SCV002239442 pathogenic not provided 2024-01-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg311Lysfs*7) in the TYR gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TYR are known to be pathogenic (PMID: 23504663). This variant is present in population databases (rs371141427, gnomAD 0.06%). This premature translational stop signal has been observed in individuals with clinical features of oculocutaneous albinism (PMID: 27829221; Invitae). It has also been observed to segregate with disease in related individuals. This variant is also known as c.929_930insC. ClinVar contains an entry for this variant (Variation ID: 3771). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003460412 SCV004207541 pathogenic SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN 2023-10-28 criteria provided, single submitter clinical testing
OMIM RCV000003969 SCV000024134 pathogenic Tyrosinase-negative oculocutaneous albinism 1989-11-15 no assertion criteria provided literature only
Retina International RCV000085980 SCV000118123 not provided not provided no assertion provided not provided

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