ClinVar Miner

Submissions for variant NM_004183.4(BEST1):c.436_437delinsAA (p.Ala146Lys)

dbSNP: rs1800995
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000086136 SCV000490428 pathogenic not provided 2015-08-28 criteria provided, single submitter clinical testing The c.436_437delGCinsAA mutation in the BEST1 gene, which leads to substitution of Alanine 146 with a Lysine residue, has been reported previously in association with Best disease (Allikmets et al., 1999). We consider this variant to be pathogenic.
Invitae RCV000086136 SCV002135591 pathogenic not provided 2023-05-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects BEST1 function (PMID: 17898294, 23139242). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 2736). This missense change has been observed in individuals with autosomal dominant Best disease (PMID: 10453731, 10737974, 11713080, 23139242). This variant is present in population databases (rs1800995, gnomAD 0.0007%). This sequence change replaces alanine, which is neutral and non-polar, with lysine, which is basic and polar, at codon 146 of the BEST1 protein (p.Ala146Lys).
OMIM RCV000002857 SCV000023015 pathogenic Vitelliform macular dystrophy 2 1999-06-01 no assertion criteria provided literature only
Retina International RCV000086136 SCV000118280 not provided not provided no assertion provided not provided

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